Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Adenocarcinoma
Biosynthesis and transport of lysosomal alpha-glucosidase in the human colon carcinoma cell line Caco-2: secretion from the apical surface.
alpha-glucosidase deficiency
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
alpha-glucosidase deficiency
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
alpha-glucosidase deficiency
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
alpha-glucosidase deficiency
Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
Anaphylaxis
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
Anaphylaxis
Mapping the T helper cell response to acid ?-glucosidase in Pompe mice.
Arthritis
Development of ImmTOR Tolerogenic Nanoparticles for the Mitigation of Anti-drug Antibodies.
Carcinogenesis
Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein.
Carcinoma
Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein.
Carcinoma, Hepatocellular
Castanospermine inhibits glucosidase I and glycoprotein secretion in human hepatoma cells.
Carcinoma, Hepatocellular
Differential effects of 1-deoxynojirimycin on the intracellular transport of secretory glycoproteins of human hepatoma cells in culture.
Carcinoma, Hepatocellular
Effect of glycosidase inhibitors on the biosynthesis of alpha 2-plasmin inhibitor and antithrombin III in Hep G2 cells.
Cardiomegaly
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Cardiomyopathies
Autophagy and lysosomes in Pompe disease.
Cardiomyopathies
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Cardiomyopathies
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Cardiomyopathies
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Cardiomyopathies
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Cardiomyopathies
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Cardiomyopathies
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.
Cardiomyopathies
Enzyme replacement therapy in the mouse model of Pompe disease.
Cardiomyopathies
Fractures in children with Pompe disease: a potential long-term complication.
Cardiomyopathies
Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
Cardiomyopathies
Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.
Cardiomyopathies
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Cardiomyopathies
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Cardiomyopathies
Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
Cardiomyopathies
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.
Cardiomyopathies
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
Cardiomyopathies
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Cardiomyopathies
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease.
Cardiomyopathy, Hypertrophic
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Cardiomyopathy, Hypertrophic
Long-term outcome and unmet needs in infantile-onset Pompe disease.
Cardiomyopathy, Hypertrophic
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Cardiomyopathy, Hypertrophic
Physiological Correction of Pompe Disease by Systemic Delivery of Adeno-associated Virus Serotype 1 Vectors.
Cleft Lip
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
Congenital Disorders of Glycosylation
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb).
Cystic Fibrosis
Activity levels and properties of acid alpha-glucosidase from liver and neutral alpha-glucosidase from sera of cystic fibrosis patients and controls.
Cystic Fibrosis
Alterations in specific activity of lysosomal alpha-glucosidase in cystic fibrosis.
Deglutition Disorders
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
Genetic Diseases, Inborn
A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.
Genetic Diseases, Inborn
DeepNEU: Artificially Induced Stem Cell (aiPSC) and Differentiated Skeletal Muscle Cell (aiSkMC) Simulations of Infantile Onset POMPE Disease (IOPD) for Potential Biomarker Identification and Drug Discovery.
Genetic Diseases, Inborn
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Genetic Diseases, Inborn
Mobility assessment using wearable technology in patients with late-onset Pompe disease.
Genetic Diseases, Inborn
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Glioma
Lipoprotein receptor binding, cellular uptake, and lysosomal delivery of fusions between the receptor-associated protein (RAP) and alpha-L-iduronidase or acid alpha-glucosidase.
Glomerulonephritis, Membranous
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
glucan 1,4-alpha-glucosidase deficiency
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
glucan 1,4-alpha-glucosidase deficiency
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
glucan 1,4-alpha-glucosidase deficiency
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.
glucan 1,4-alpha-glucosidase deficiency
Clinical features of Pompe disease.
glucan 1,4-alpha-glucosidase deficiency
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
glucan 1,4-alpha-glucosidase deficiency
Developmental study of alpha-glucosidases in Japanese quails with acid maltase deficiency.
glucan 1,4-alpha-glucosidase deficiency
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
glucan 1,4-alpha-glucosidase deficiency
Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).
glucan 1,4-alpha-glucosidase deficiency
Infantile and adult-onset acid maltase deficiency occurring in the same family.
glucan 1,4-alpha-glucosidase deficiency
Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
glucan 1,4-alpha-glucosidase deficiency
Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue.
Glycogen Storage Disease
A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2.
Glycogen Storage Disease
A family with pseudodeficiency of acid alpha-glucosidase.
Glycogen Storage Disease
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
Glycogen Storage Disease
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
Glycogen Storage Disease
A review of treatment of Pompe disease in infants.
Glycogen Storage Disease
A simple differential immunoprecipitation assay of urinary acid and neutral alpha-glucosidases for glycogenosis II.
Glycogen Storage Disease
Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).
Glycogen Storage Disease
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Glycogen Storage Disease
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
Glycogen Storage Disease
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
Glycogen Storage Disease
Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Glycogen Storage Disease
Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.
Glycogen Storage Disease
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
Glycogen Storage Disease
Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice.
Glycogen Storage Disease
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.
Glycogen Storage Disease
Biochemical genetics of glycogenosis type II in Brahman cattle.
Glycogen Storage Disease
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
Glycogen Storage Disease
Biochemical, immunological, and cell genetic studies in glycogenosis type II.
Glycogen Storage Disease
Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).
Glycogen Storage Disease
Bovine generalised glycogenosis type II. Uptake of lysosomal alpha-glucosidase by cultured skeletal muscle and reversal of glycogen accumulation.
Glycogen Storage Disease
Bovine glycogenosis type II: the molecular defect in Shorthorn cattle.
Glycogen Storage Disease
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
Glycogen Storage Disease
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Glycogen Storage Disease
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Glycogen Storage Disease
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
Glycogen Storage Disease
Clinical features of Pompe disease.
Glycogen Storage Disease
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Glycogen Storage Disease
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.
Glycogen Storage Disease
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.
Glycogen Storage Disease
Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
Glycogen Storage Disease
Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.
Glycogen Storage Disease
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
Glycogen Storage Disease
Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
Glycogen Storage Disease
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
Glycogen Storage Disease
Effects of N-hydroxyethyl-1-deoxynojirimycin (BAY m 1099) on the activity of neutral- and acid alpha-glucosidases in human fibroblasts and HepG2 cells.
Glycogen Storage Disease
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.
Glycogen Storage Disease
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
Glycogen Storage Disease
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Glycogen Storage Disease
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
Glycogen Storage Disease
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
Glycogen Storage Disease
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
Glycogen Storage Disease
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
Glycogen Storage Disease
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
Glycogen Storage Disease
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
Glycogen Storage Disease
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Glycogen Storage Disease
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Glycogen Storage Disease
Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.
Glycogen Storage Disease
First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
Glycogen Storage Disease
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.
Glycogen Storage Disease
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Glycogen Storage Disease
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Glycogen Storage Disease
Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.
Glycogen Storage Disease
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Glycogen Storage Disease
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
Glycogen Storage Disease
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Glycogen Storage Disease
Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
Glycogen Storage Disease
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
Glycogen Storage Disease
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Glycogen Storage Disease
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Glycogen Storage Disease
Hematopoietic contribution to skeletal muscle regeneration in acid alpha-glucosidase knockout mice.
Glycogen Storage Disease
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
Glycogen Storage Disease
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Glycogen Storage Disease
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Glycogen Storage Disease
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Glycogen Storage Disease
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Glycogen Storage Disease
Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease.
Glycogen Storage Disease
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
Glycogen Storage Disease
Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II.
Glycogen Storage Disease
Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
Glycogen Storage Disease
Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).
Glycogen Storage Disease
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
Glycogen Storage Disease
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Glycogen Storage Disease
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.
Glycogen Storage Disease
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.
Glycogen Storage Disease
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
Glycogen Storage Disease
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
Glycogen Storage Disease
Isolation and characterization of three alpha-glucosidases from the Japanese quail.
Glycogen Storage Disease
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Glycogen Storage Disease
Late-onset Glycogen Storage Disease type 2.
Glycogen Storage Disease
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Glycogen Storage Disease
Leucocyte alpha-1,4- and alpha-1,6-glucosidase activities towards oligosaccharides in late onset glycogenosis type II.
Glycogen Storage Disease
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Glycogen Storage Disease
Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase.
Glycogen Storage Disease
Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
Glycogen Storage Disease
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Glycogen Storage Disease
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Glycogen Storage Disease
Molecular Approaches for the Treatment of Pompe Disease.
Glycogen Storage Disease
Molecular genetics of late onset glycogen storage disease II in Italy.
Glycogen Storage Disease
Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
Glycogen Storage Disease
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Glycogen Storage Disease
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Glycogen Storage Disease
Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.
Glycogen Storage Disease
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Glycogen Storage Disease
Non-muscle involvement in late-onset glycogenosis II.
Glycogen Storage Disease
Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.
Glycogen Storage Disease
Partial characterization of leucocyte alpha-glucosidase in late onset glycogenosis type II.
Glycogen Storage Disease
Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.
Glycogen Storage Disease
Physico-chemical and immunological properties of acid alpha-glucosidase from various human tissues in relation to glycogenosis type II (Pompe's disease).
Glycogen Storage Disease
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Glycogen Storage Disease
Possibilities for the cytochemical diagnosis of enzymopathies.
Glycogen Storage Disease
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Glycogen Storage Disease
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
Glycogen Storage Disease
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Glycogen Storage Disease
Recombinant human acid alpha-glucosidase generated in bacteria: antigenic, but enzymatically inactive.
Glycogen Storage Disease
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
Glycogen Storage Disease
Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.
Glycogen Storage Disease
Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase.
Glycogen Storage Disease
Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Glycogen Storage Disease
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
Glycogen Storage Disease
Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion.
Glycogen Storage Disease
Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
Glycogen Storage Disease
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
Glycogen Storage Disease
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
Glycogen Storage Disease
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.
Glycogen Storage Disease
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
Glycogen Storage Disease
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Glycogen Storage Disease
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Glycogen Storage Disease
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Glycogen Storage Disease
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Glycogen Storage Disease
Two cases of Pompe's disease: case report and review of literature.
Glycogen Storage Disease
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Glycogen Storage Disease
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Glycogen Storage Disease
Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.
Glycogen Storage Disease
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts.
Glycogen Storage Disease
[A new phenotype of infantile-onset Pompe disease].
Glycogen Storage Disease
[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
Glycogen Storage Disease
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity.]
Glycogen Storage Disease
[Glycogenosis type II; acid alpha-glucosidase deficiency]
Glycogen Storage Disease
[Pompe's disease--acid alpha-glucosidase deficiency--a review]
Glycogen Storage Disease
[Therapy for myopathies: from management to genetic treatment: introductory remarks]
Glycogen Storage Disease Type II
24-Months results in two adults with Pompe disease on enzyme replacement therapy.
Glycogen Storage Disease Type II
36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.
Glycogen Storage Disease Type II
?2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.
Glycogen Storage Disease Type II
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Glycogen Storage Disease Type II
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Glycogen Storage Disease Type II
A family with pseudodeficiency of acid alpha-glucosidase.
Glycogen Storage Disease Type II
A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.
Glycogen Storage Disease Type II
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
Glycogen Storage Disease Type II
A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations.
Glycogen Storage Disease Type II
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
Glycogen Storage Disease Type II
A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.
Glycogen Storage Disease Type II
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Glycogen Storage Disease Type II
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
Glycogen Storage Disease Type II
A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease.
Glycogen Storage Disease Type II
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
Glycogen Storage Disease Type II
A review of treatment of Pompe disease in infants.
Glycogen Storage Disease Type II
A Senile Case of Late-onset Pompe's Disease.
Glycogen Storage Disease Type II
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Glycogen Storage Disease Type II
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.
Glycogen Storage Disease Type II
Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).
Glycogen Storage Disease Type II
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Glycogen Storage Disease Type II
Acid alpha-glucosidase deficiency (Pompe disease).
Glycogen Storage Disease Type II
Acid alpha-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid alpha-glucosidase.
Glycogen Storage Disease Type II
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
Glycogen Storage Disease Type II
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study.
Glycogen Storage Disease Type II
Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.
Glycogen Storage Disease Type II
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
Glycogen Storage Disease Type II
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
Glycogen Storage Disease Type II
Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Glycogen Storage Disease Type II
Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.
Glycogen Storage Disease Type II
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
Glycogen Storage Disease Type II
Advances in diagnosis and management of Pompe disease.
Glycogen Storage Disease Type II
Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice.
Glycogen Storage Disease Type II
Airway smooth muscle dysfunction in Pompe (Gaa-/-) mice.
Glycogen Storage Disease Type II
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Glycogen Storage Disease Type II
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Glycogen Storage Disease Type II
Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.
Glycogen Storage Disease Type II
Ampakines Stimulate Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease.
Glycogen Storage Disease Type II
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.
Glycogen Storage Disease Type II
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
Glycogen Storage Disease Type II
Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease.
Glycogen Storage Disease Type II
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
Glycogen Storage Disease Type II
Autophagy and lysosomes in Pompe disease.
Glycogen Storage Disease Type II
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Glycogen Storage Disease Type II
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.
Glycogen Storage Disease Type II
B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease.
Glycogen Storage Disease Type II
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
Glycogen Storage Disease Type II
Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.
Glycogen Storage Disease Type II
Biochemical genetics of glycogenosis type II in Brahman cattle.
Glycogen Storage Disease Type II
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
Glycogen Storage Disease Type II
Biochemical, immunological, and cell genetic studies in glycogenosis type II.
Glycogen Storage Disease Type II
Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).
Glycogen Storage Disease Type II
Bovine generalised glycogenosis type II. Uptake of lysosomal alpha-glucosidase by cultured skeletal muscle and reversal of glycogen accumulation.
Glycogen Storage Disease Type II
Bovine glycogenosis type II: the molecular defect in Shorthorn cattle.
Glycogen Storage Disease Type II
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
Glycogen Storage Disease Type II
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Glycogen Storage Disease Type II
Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.
Glycogen Storage Disease Type II
Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.
Glycogen Storage Disease Type II
Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
Glycogen Storage Disease Type II
Cardiac outcome in classic infantile Pompe disease after 13?years of treatment with recombinant human acid alpha-glucosidase.
Glycogen Storage Disease Type II
Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.
Glycogen Storage Disease Type II
Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice.
Glycogen Storage Disease Type II
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.
Glycogen Storage Disease Type II
Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease.
Glycogen Storage Disease Type II
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
Glycogen Storage Disease Type II
Chagasic cardiomyopathy and Pompe disease: case report.
Glycogen Storage Disease Type II
Challenges in treating Pompe disease: an industry perspective.
Glycogen Storage Disease Type II
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Glycogen Storage Disease Type II
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.
Glycogen Storage Disease Type II
Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
Glycogen Storage Disease Type II
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Glycogen Storage Disease Type II
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Glycogen Storage Disease Type II
Clinical Analysis of Algerian Patients with Pompe Disease.
Glycogen Storage Disease Type II
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
Glycogen Storage Disease Type II
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Glycogen Storage Disease Type II
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Glycogen Storage Disease Type II
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Glycogen Storage Disease Type II
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Glycogen Storage Disease Type II
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
Glycogen Storage Disease Type II
Clinical features of Pompe disease.
Glycogen Storage Disease Type II
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Glycogen Storage Disease Type II
Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease.
Glycogen Storage Disease Type II
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
Glycogen Storage Disease Type II
Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
Glycogen Storage Disease Type II
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.
Glycogen Storage Disease Type II
Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report.
Glycogen Storage Disease Type II
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Glycogen Storage Disease Type II
Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice.
Glycogen Storage Disease Type II
Consensus treatment recommendations for late-onset Pompe disease.
Glycogen Storage Disease Type II
Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.
Glycogen Storage Disease Type II
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.
Glycogen Storage Disease Type II
Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
Glycogen Storage Disease Type II
Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
Glycogen Storage Disease Type II
Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.
Glycogen Storage Disease Type II
Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
Glycogen Storage Disease Type II
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
Glycogen Storage Disease Type II
CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Glycogen Storage Disease Type II
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Glycogen Storage Disease Type II
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Glycogen Storage Disease Type II
Deconstructing pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...''.
Glycogen Storage Disease Type II
DeepNEU: Artificially Induced Stem Cell (aiPSC) and Differentiated Skeletal Muscle Cell (aiSkMC) Simulations of Infantile Onset POMPE Disease (IOPD) for Potential Biomarker Identification and Drug Discovery.
Glycogen Storage Disease Type II
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
Glycogen Storage Disease Type II
Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature.
Glycogen Storage Disease Type II
Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method.
Glycogen Storage Disease Type II
Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
Glycogen Storage Disease Type II
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Glycogen Storage Disease Type II
Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease.
Glycogen Storage Disease Type II
Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.
Glycogen Storage Disease Type II
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
Glycogen Storage Disease Type II
Development of ImmTOR Tolerogenic Nanoparticles for the Mitigation of Anti-drug Antibodies.
Glycogen Storage Disease Type II
Developmental study of alpha-glucosidases in Japanese quails with acid maltase deficiency.
Glycogen Storage Disease Type II
Diagnosis of glycogenosis type II.
Glycogen Storage Disease Type II
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Glycogen Storage Disease Type II
Diagnostic tools in late onset Pompe disease (LOPD).
Glycogen Storage Disease Type II
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.
Glycogen Storage Disease Type II
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.
Glycogen Storage Disease Type II
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Glycogen Storage Disease Type II
Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease.
Glycogen Storage Disease Type II
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.
Glycogen Storage Disease Type II
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
Glycogen Storage Disease Type II
Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study.
Glycogen Storage Disease Type II
Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study.
Glycogen Storage Disease Type II
Effects of N-hydroxyethyl-1-deoxynojirimycin (BAY m 1099) on the activity of neutral- and acid alpha-glucosidases in human fibroblasts and HepG2 cells.
Glycogen Storage Disease Type II
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.
Glycogen Storage Disease Type II
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Glycogen Storage Disease Type II
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
Glycogen Storage Disease Type II
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Glycogen Storage Disease Type II
Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase.
Glycogen Storage Disease Type II
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
Glycogen Storage Disease Type II
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Glycogen Storage Disease Type II
Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase.
Glycogen Storage Disease Type II
Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease.
Glycogen Storage Disease Type II
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
Glycogen Storage Disease Type II
Enzyme replacement therapy for infantile-onset Pompe disease.
Glycogen Storage Disease Type II
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
Glycogen Storage Disease Type II
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
Glycogen Storage Disease Type II
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
Glycogen Storage Disease Type II
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
Glycogen Storage Disease Type II
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
Glycogen Storage Disease Type II
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
Glycogen Storage Disease Type II
Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning.
Glycogen Storage Disease Type II
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Glycogen Storage Disease Type II
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Glycogen Storage Disease Type II
Expansion of immature, nucleated red blood cells by transient low-dose methotrexate immune tolerance induction in mice.
Glycogen Storage Disease Type II
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Glycogen Storage Disease Type II
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Glycogen Storage Disease Type II
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease.
Glycogen Storage Disease Type II
Feasibility Study for Bedside Production of Recombinant Human Acid ?-Glucosidase: Technical and Financial Considerations.
Glycogen Storage Disease Type II
Fiber type conversion by PGC-1? activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.
Glycogen Storage Disease Type II
First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
Glycogen Storage Disease Type II
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.
Glycogen Storage Disease Type II
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Glycogen Storage Disease Type II
Four unreported types of glycans containing mannose-6-phosphate are heterogeneously attached at three sites (including newly found Asn 233) to recombinant human acid alpha-glucosidase that is the only approved treatment for Pompe disease.
Glycogen Storage Disease Type II
Fractures in children with Pompe disease: a potential long-term complication.
Glycogen Storage Disease Type II
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Glycogen Storage Disease Type II
Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.
Glycogen Storage Disease Type II
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Glycogen Storage Disease Type II
Genetic counseling in Pompe disease.
Glycogen Storage Disease Type II
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Glycogen Storage Disease Type II
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Glycogen Storage Disease Type II
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Glycogen Storage Disease Type II
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.
Glycogen Storage Disease Type II
Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease.
Glycogen Storage Disease Type II
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Glycogen Storage Disease Type II
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
Glycogen Storage Disease Type II
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
Glycogen Storage Disease Type II
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Glycogen Storage Disease Type II
Glycogen storage diseases.
Glycogen Storage Disease Type II
Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
Glycogen Storage Disease Type II
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
Glycogen Storage Disease Type II
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
Glycogen Storage Disease Type II
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Glycogen Storage Disease Type II
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Glycogen Storage Disease Type II
Hematopoietic contribution to skeletal muscle regeneration in acid alpha-glucosidase knockout mice.
Glycogen Storage Disease Type II
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.
Glycogen Storage Disease Type II
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
Glycogen Storage Disease Type II
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
Glycogen Storage Disease Type II
High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.
Glycogen Storage Disease Type II
High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology.
Glycogen Storage Disease Type II
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Glycogen Storage Disease Type II
HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).
Glycogen Storage Disease Type II
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
Glycogen Storage Disease Type II
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Glycogen Storage Disease Type II
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Glycogen Storage Disease Type II
Human amniotic fluid alpha-glucosidase.
Glycogen Storage Disease Type II
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
Glycogen Storage Disease Type II
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Glycogen Storage Disease Type II
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
Glycogen Storage Disease Type II
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Glycogen Storage Disease Type II
Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease.
Glycogen Storage Disease Type II
Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report.
Glycogen Storage Disease Type II
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
Glycogen Storage Disease Type II
Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model.
Glycogen Storage Disease Type II
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
Glycogen Storage Disease Type II
Immunohistochemical demonstration of acid alpha-glucosidase in muscle in Pompe's disease.
Glycogen Storage Disease Type II
Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.
Glycogen Storage Disease Type II
Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease.
Glycogen Storage Disease Type II
Immunomodulatory, liver depot gene therapy for Pompe disease.
Glycogen Storage Disease Type II
Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II.
Glycogen Storage Disease Type II
Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease.
Glycogen Storage Disease Type II
Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
Glycogen Storage Disease Type II
In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.
Glycogen Storage Disease Type II
Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).
Glycogen Storage Disease Type II
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
Glycogen Storage Disease Type II
Infantile and adult-onset acid maltase deficiency occurring in the same family.
Glycogen Storage Disease Type II
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Glycogen Storage Disease Type II
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.
Glycogen Storage Disease Type II
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Glycogen Storage Disease Type II
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
Glycogen Storage Disease Type II
Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid ?-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.
Glycogen Storage Disease Type II
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
Glycogen Storage Disease Type II
Isolation and characterization of three alpha-glucosidases from the Japanese quail.
Glycogen Storage Disease Type II
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.
Glycogen Storage Disease Type II
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Glycogen Storage Disease Type II
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
Glycogen Storage Disease Type II
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.
Glycogen Storage Disease Type II
Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
Glycogen Storage Disease Type II
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Glycogen Storage Disease Type II
Leucocyte alpha-1,4- and alpha-1,6-glucosidase activities towards oligosaccharides in late onset glycogenosis type II.
Glycogen Storage Disease Type II
Lipidic Nanoparticles Comprising Phosphatidylinositol Mitigate Immunogenicity and Improve Efficacy of Recombinant Human Acid Alpha-Glucosidase in a Murine Model of Pompe Disease.
Glycogen Storage Disease Type II
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.
Glycogen Storage Disease Type II
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
Glycogen Storage Disease Type II
Long-Term Interruption of Enzyme Replacement Therapy with rhGAA in Pompe Disease Leads to Irreversible Clinical Decline.
Glycogen Storage Disease Type II
Long-term outcome and unmet needs in infantile-onset Pompe disease.
Glycogen Storage Disease Type II
Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density.
Glycogen Storage Disease Type II
Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor.
Glycogen Storage Disease Type II
Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
Glycogen Storage Disease Type II
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
Glycogen Storage Disease Type II
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
Glycogen Storage Disease Type II
Mobility assessment using wearable technology in patients with late-onset Pompe disease.
Glycogen Storage Disease Type II
Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells.
Glycogen Storage Disease Type II
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Glycogen Storage Disease Type II
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Glycogen Storage Disease Type II
Molecular Approaches for the Treatment of Pompe Disease.
Glycogen Storage Disease Type II
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
Glycogen Storage Disease Type II
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Glycogen Storage Disease Type II
Molecular genetics of late onset glycogen storage disease II in Italy.
Glycogen Storage Disease Type II
Molecular genetics of Pompe disease: a comprehensive overview.
Glycogen Storage Disease Type II
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
Glycogen Storage Disease Type II
Monitoring cardiac function by B-type natriuretic peptide (BNP) in patients with infantile Pompe's disease treated with recombinant alpha-glucosidase.
Glycogen Storage Disease Type II
Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.
Glycogen Storage Disease Type II
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Glycogen Storage Disease Type II
Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
Glycogen Storage Disease Type II
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Glycogen Storage Disease Type II
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Glycogen Storage Disease Type II
N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.
Glycogen Storage Disease Type II
Natural bone marrow transplantation in cattle with Pompe's disease.
Glycogen Storage Disease Type II
Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
Glycogen Storage Disease Type II
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
Glycogen Storage Disease Type II
Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.
Glycogen Storage Disease Type II
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Glycogen Storage Disease Type II
New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.
Glycogen Storage Disease Type II
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
Glycogen Storage Disease Type II
Newborn screening for Pompe disease in Japan.
Glycogen Storage Disease Type II
Newborn screening: Taiwanese experience.
Glycogen Storage Disease Type II
Non-muscle involvement in late-onset glycogenosis II.
Glycogen Storage Disease Type II
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
Glycogen Storage Disease Type II
Novel method for detection of glycogen in cells.
Glycogen Storage Disease Type II
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Glycogen Storage Disease Type II
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Glycogen Storage Disease Type II
Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model.
Glycogen Storage Disease Type II
Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.
Glycogen Storage Disease Type II
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Glycogen Storage Disease Type II
Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.
Glycogen Storage Disease Type II
Partial characterization of leucocyte alpha-glucosidase in late onset glycogenosis type II.
Glycogen Storage Disease Type II
Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.
Glycogen Storage Disease Type II
Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development.
Glycogen Storage Disease Type II
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells.
Glycogen Storage Disease Type II
Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.
Glycogen Storage Disease Type II
Phase I/II trial of diaphragm delivery of recombinant adeno-associated virus acid alpha-glucosidase (rAAaV1-CMV-GAA) gene vector in patients with Pompe disease.
Glycogen Storage Disease Type II
Phosphatidylserine Converts Immunogenic Recombinant Human Acid Alpha-Glucosidase to a Tolerogenic Form in a Mouse Model of Pompe Disease.
Glycogen Storage Disease Type II
Phosphatidylserine Is Not Just a Cleanup Crew but Also a Well-Meaning Teacher.
Glycogen Storage Disease Type II
Physical therapy management of Pompe disease.
Glycogen Storage Disease Type II
Physico-chemical and immunological properties of acid alpha-glucosidase from various human tissues in relation to glycogenosis type II (Pompe's disease).
Glycogen Storage Disease Type II
Physiological Correction of Pompe Disease by Systemic Delivery of Adeno-associated Virus Serotype 1 Vectors.
Glycogen Storage Disease Type II
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Glycogen Storage Disease Type II
Pompe disease gene therapy.
Glycogen Storage Disease Type II
Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
Glycogen Storage Disease Type II
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Glycogen Storage Disease Type II
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Glycogen Storage Disease Type II
Pompe disease: a neuromuscular disease with respiratory muscle involvement.
Glycogen Storage Disease Type II
Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.
Glycogen Storage Disease Type II
Pompe disease: from pathophysiology to therapy and back again.
Glycogen Storage Disease Type II
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Glycogen Storage Disease Type II
Pompe disease: what are we missing?
Glycogen Storage Disease Type II
Pompe's disease.
Glycogen Storage Disease Type II
Pompe's disease: diagnosis in kidney and leucocytes using 4-methylumbelliferyl-alpha-D-glucopyranoside.
Glycogen Storage Disease Type II
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.
Glycogen Storage Disease Type II
Preclinical Toxicology and Biodistribution Studies of Recombinant Adeno-Associated Virus 1 Human Acid ?-Glucosidase.
Glycogen Storage Disease Type II
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Glycogen Storage Disease Type II
Pregnancy Outcomes in Late Onset Pompe Disease.
Glycogen Storage Disease Type II
Profiles of plant core-fucosylated N-glycans of acid alpha-glucosidases produced in transgenic rice cell suspension cultures treated with eight different conditions.
Glycogen Storage Disease Type II
Progress and challenges of gene therapy for Pompe disease.
Glycogen Storage Disease Type II
Purification of recombinant human precursor acid alpha-glucosidase.
Glycogen Storage Disease Type II
Quantitative computed tomography for enzyme replacement therapy in Pompe disease.
Glycogen Storage Disease Type II
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
Glycogen Storage Disease Type II
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Glycogen Storage Disease Type II
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Glycogen Storage Disease Type II
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
Glycogen Storage Disease Type II
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Glycogen Storage Disease Type II
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
Glycogen Storage Disease Type II
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Glycogen Storage Disease Type II
Recombinant human acid alpha-glucosidase generated in bacteria: antigenic, but enzymatically inactive.
Glycogen Storage Disease Type II
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
Glycogen Storage Disease Type II
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Glycogen Storage Disease Type II
Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.
Glycogen Storage Disease Type II
Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature.
Glycogen Storage Disease Type II
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
Glycogen Storage Disease Type II
Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase.
Glycogen Storage Disease Type II
Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Glycogen Storage Disease Type II
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
Glycogen Storage Disease Type II
Role of autophagy in the pathogenesis of Pompe disease.
Glycogen Storage Disease Type II
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Glycogen Storage Disease Type II
Salmeterol enhances the cardiac response to gene therapy in Pompe disease.
Glycogen Storage Disease Type II
Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).
Glycogen Storage Disease Type II
Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
Glycogen Storage Disease Type II
Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid {alpha}-glucosidase Gene.
Glycogen Storage Disease Type II
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
Glycogen Storage Disease Type II
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
Glycogen Storage Disease Type II
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
Glycogen Storage Disease Type II
Skeletal muscle magnetic resonance imaging in Pompe disease.
Glycogen Storage Disease Type II
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Glycogen Storage Disease Type II
Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue.
Glycogen Storage Disease Type II
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".
Glycogen Storage Disease Type II
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Glycogen Storage Disease Type II
Subcellular distribution of acid alpha-glucosidase in fibroblasts and of antigenically cross-reactive material in Pompe's disease fibroblasts.
Glycogen Storage Disease Type II
Successful combined liver/kidney transplantation from a donor with Pompe disease.
Glycogen Storage Disease Type II
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease.
Glycogen Storage Disease Type II
Surprises of genetic engineering: a possible model of polyglucosan body disease.
Glycogen Storage Disease Type II
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.
Glycogen Storage Disease Type II
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
Glycogen Storage Disease Type II
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.
Glycogen Storage Disease Type II
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease.
Glycogen Storage Disease Type II
Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.
Glycogen Storage Disease Type II
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
Glycogen Storage Disease Type II
Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice.
Glycogen Storage Disease Type II
The effect of age on biochemical and morphological changes in the semitendinosus muscle of cattle with generalized glycogenosis type II.
Glycogen Storage Disease Type II
The First Year Experience of Newborn Screening for Pompe Disease in California.
Glycogen Storage Disease Type II
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Glycogen Storage Disease Type II
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Glycogen Storage Disease Type II
The infantile-onset form of Pompe disease: an autopsy diagnosis.
Glycogen Storage Disease Type II
The natural course of non-classic Pompe's disease; a review of 225 published cases.
Glycogen Storage Disease Type II
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Glycogen Storage Disease Type II
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Glycogen Storage Disease Type II
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts.
Glycogen Storage Disease Type II
The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.
Glycogen Storage Disease Type II
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
Glycogen Storage Disease Type II
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Glycogen Storage Disease Type II
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Glycogen Storage Disease Type II
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Glycogen Storage Disease Type II
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Glycogen Storage Disease Type II
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Glycogen Storage Disease Type II
Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
Glycogen Storage Disease Type II
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Glycogen Storage Disease Type II
Two cases of Pompe's disease: case report and review of literature.
Glycogen Storage Disease Type II
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Glycogen Storage Disease Type II
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Glycogen Storage Disease Type II
Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.
Glycogen Storage Disease Type II
Uptake of moss-derived human recombinant GAA in Gaa -/- mice.
Glycogen Storage Disease Type II
Use of immobilized antibodies in investigating acid alpha-glucosidase in urine in relation to Pompe's disease.
Glycogen Storage Disease Type II
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts.
Glycogen Storage Disease Type II
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.
Glycogen Storage Disease Type II
[A case of Pompe disease treated with acid alpha-glucosidase]
Glycogen Storage Disease Type II
[A new phenotype of infantile-onset Pompe disease].
Glycogen Storage Disease Type II
[Acid alpha-glucosidase deficiency: Pompe's disease]
Glycogen Storage Disease Type II
[Adult form of Pompe disease]
Glycogen Storage Disease Type II
[Adult Pompe disease with normal acid alpha-glucosidase activity in leukocytes]
Glycogen Storage Disease Type II
[Argentine consensus on late-onset Pompe's disease].
Glycogen Storage Disease Type II
[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]
Glycogen Storage Disease Type II
[Clinical development of acid alpha-glucosidase for the treatment of Pompe disease]
Glycogen Storage Disease Type II
[Enzyme replacement therapy in a patient with Pompe disease]
Glycogen Storage Disease Type II
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity.]
Glycogen Storage Disease Type II
[Glycogenosis type II; acid alpha-glucosidase deficiency]
Glycogen Storage Disease Type II
[New approaches for the treatment of metabolic myopathies]
Glycogen Storage Disease Type II
[Pompe's disease--acid alpha-glucosidase deficiency--a review]
Glycogen Storage Disease Type II
[Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].
Glycogen Storage Disease Type II
[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease].
Glycogen Storage Disease Type II
[Therapy for myopathies: from management to genetic treatment: introductory remarks]
Glycogen Storage Disease Type II
[Thymic neuroendocrine carcinoma with Pompe's disease of the adult].
Glycogen Storage Disease Type II
[Treatment of Pompe's disease with recombinant enzymes]
Glycogen Storage Disease Type II
[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
Glycogen Storage Disease Type II
[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].
Glycogen Storage Disease Type III
Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.
Heart Failure
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Hemophilia A
Development of ImmTOR Tolerogenic Nanoparticles for the Mitigation of Anti-drug Antibodies.
Hepatitis B
Assays for glucosidase inhibitors with potential antiviral activities: secreted alkaline phosphatase as a surrogate marker.
Hepatitis B
Hepatitis B virus surface antigen interacts with acid alpha-glucosidase and alters glycogen metabolism.
Hepatomegaly
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Hypersensitivity
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
Infections
Antibody-independent, complement-mediated enhancement of HIV-1 infection by mannosidase I and II inhibitors.
Infections
Celgosivir, an alpha-glucosidase I inhibitor for the potential treatment of HCV infection.
Influenza, Human
Inhibition of glycoprotein processing by L-fructose and L-xylulose.
Influenza, Human
Inhibition of N-linked oligosaccharide trimming does not interfere with surface expression of certain integral membrane proteins.
Influenza, Human
Inhibition of processing of plant N-linked oligosaccharides by castanospermine.
Intellectual Disability
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Leukemia
Effect of glycoprotein-processing inhibitors on the mouse IgE binding capacity of rat basophilic leukemia cells.
Leukemia
Inhibition of glycoprotein processing and HIV replication by castanospermine analogues.
Lymphoma
The effect of castanospermine on the oligosaccharide structures of glycoproteins from lymphoma cell lines.
Lysosomal Storage Diseases
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Lysosomal Storage Diseases
Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Lysosomal Storage Diseases
Chagasic cardiomyopathy and Pompe disease: case report.
Lysosomal Storage Diseases
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
Lysosomal Storage Diseases
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
Lysosomal Storage Diseases
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Lysosomal Storage Diseases
Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II.
Lysosomal Storage Diseases
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
Lysosomal Storage Diseases
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Lysosomal Storage Diseases
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Lysosomal Storage Diseases
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
Lysosomal Storage Diseases
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Lysosomal Storage Diseases
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts.
Lysosomal Storage Diseases
[Thymic neuroendocrine carcinoma with Pompe's disease of the adult].
Mania
Robert Lowell, Setting the River on Fire: A Study of Genius, Mania, and Characterby Kay Redfield Jamison, Ph.D. New York, Alfred A Knopf, 2017, 544 pp., $29.95 (hardcover).
mannosyl-oligosaccharide glucosidase deficiency
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
mannosyl-oligosaccharide glucosidase deficiency
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
mannosyl-oligosaccharide glucosidase deficiency
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
mannosyl-oligosaccharide glucosidase deficiency
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.
mannosyl-oligosaccharide glucosidase deficiency
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
mannosyl-oligosaccharide glucosidase deficiency
Acid alpha-glucosidase deficiency (Pompe disease).
mannosyl-oligosaccharide glucosidase deficiency
Acid alpha-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid alpha-glucosidase.
mannosyl-oligosaccharide glucosidase deficiency
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
mannosyl-oligosaccharide glucosidase deficiency
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study.
mannosyl-oligosaccharide glucosidase deficiency
Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.
mannosyl-oligosaccharide glucosidase deficiency
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
mannosyl-oligosaccharide glucosidase deficiency
Biochemical genetics of glycogenosis type II in Brahman cattle.
mannosyl-oligosaccharide glucosidase deficiency
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
mannosyl-oligosaccharide glucosidase deficiency
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
mannosyl-oligosaccharide glucosidase deficiency
Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
mannosyl-oligosaccharide glucosidase deficiency
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
mannosyl-oligosaccharide glucosidase deficiency
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
mannosyl-oligosaccharide glucosidase deficiency
Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
mannosyl-oligosaccharide glucosidase deficiency
Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report.
mannosyl-oligosaccharide glucosidase deficiency
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
mannosyl-oligosaccharide glucosidase deficiency
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
mannosyl-oligosaccharide glucosidase deficiency
Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature.
mannosyl-oligosaccharide glucosidase deficiency
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.
mannosyl-oligosaccharide glucosidase deficiency
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
mannosyl-oligosaccharide glucosidase deficiency
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
mannosyl-oligosaccharide glucosidase deficiency
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
mannosyl-oligosaccharide glucosidase deficiency
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
mannosyl-oligosaccharide glucosidase deficiency
Genetic heterogeneity in acid alpha-glucosidase deficiency.
mannosyl-oligosaccharide glucosidase deficiency
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
mannosyl-oligosaccharide glucosidase deficiency
Human amniotic fluid alpha-glucosidase.
mannosyl-oligosaccharide glucosidase deficiency
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
mannosyl-oligosaccharide glucosidase deficiency
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
mannosyl-oligosaccharide glucosidase deficiency
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
mannosyl-oligosaccharide glucosidase deficiency
Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells.
mannosyl-oligosaccharide glucosidase deficiency
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
mannosyl-oligosaccharide glucosidase deficiency
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
mannosyl-oligosaccharide glucosidase deficiency
Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.
mannosyl-oligosaccharide glucosidase deficiency
Newborn screening: Taiwanese experience.
mannosyl-oligosaccharide glucosidase deficiency
Non-muscle involvement in late-onset glycogenosis II.
mannosyl-oligosaccharide glucosidase deficiency
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
mannosyl-oligosaccharide glucosidase deficiency
Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development.
mannosyl-oligosaccharide glucosidase deficiency
Pompe's disease.
mannosyl-oligosaccharide glucosidase deficiency
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
mannosyl-oligosaccharide glucosidase deficiency
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
mannosyl-oligosaccharide glucosidase deficiency
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
mannosyl-oligosaccharide glucosidase deficiency
Recombinant HIV envelope expressed in an alpha-glucosidase I-deficient CHO cell line and its parental cell line in the presence of 1-deoxynojirimycin is functional.
mannosyl-oligosaccharide glucosidase deficiency
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
mannosyl-oligosaccharide glucosidase deficiency
Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).
mannosyl-oligosaccharide glucosidase deficiency
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
mannosyl-oligosaccharide glucosidase deficiency
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
mannosyl-oligosaccharide glucosidase deficiency
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
mannosyl-oligosaccharide glucosidase deficiency
[Acid alpha-glucosidase deficiency: Pompe's disease]
mannosyl-oligosaccharide glucosidase deficiency
[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]
mannosyl-oligosaccharide glucosidase deficiency
[Glycogenosis type II; acid alpha-glucosidase deficiency]
Melanoma
Inhibition of experimental metastasis by castanospermine in mice: blockage of two distinct stages of tumor colonization by oligosaccharide processing inhibitors.
Mesothelioma
Development of ImmTOR Tolerogenic Nanoparticles for the Mitigation of Anti-drug Antibodies.
Mucolipidoses
Intracellular transport of acid alpha-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system.
Mucolipidoses
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
Muscle Hypotonia
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
Muscle Hypotonia
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Muscle Weakness
A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.
Muscle Weakness
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
Muscle Weakness
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Muscle Weakness
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.
Muscle Weakness
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Muscle Weakness
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Muscle Weakness
In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.
Muscle Weakness
Long-term outcome and unmet needs in infantile-onset Pompe disease.
Muscle Weakness
Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
Muscle Weakness
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Muscle Weakness
Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.
Muscle Weakness
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Muscle Weakness
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Muscle Weakness
Skeletal muscle magnetic resonance imaging in Pompe disease.
Muscle Weakness
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Muscle Weakness
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Muscular Atrophy
[Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].
Muscular Diseases
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.
Muscular Diseases
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Muscular Diseases
Autophagy and lysosomes in Pompe disease.
Muscular Diseases
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Muscular Diseases
Clinical Analysis of Algerian Patients with Pompe Disease.
Muscular Diseases
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
Muscular Diseases
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Muscular Diseases
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Muscular Diseases
CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Muscular Diseases
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Muscular Diseases
Deconstructing pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...''.
Muscular Diseases
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Muscular Diseases
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Muscular Diseases
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.
Muscular Diseases
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
Muscular Diseases
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
Muscular Diseases
Enzyme replacement therapy in the mouse model of Pompe disease.
Muscular Diseases
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
Muscular Diseases
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Muscular Diseases
Fiber type conversion by PGC-1? activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.
Muscular Diseases
Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
Muscular Diseases
High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.
Muscular Diseases
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
Muscular Diseases
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Muscular Diseases
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Muscular Diseases
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
Muscular Diseases
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
Muscular Diseases
Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density.
Muscular Diseases
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Muscular Diseases
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Muscular Diseases
Pompe disease gene therapy.
Muscular Diseases
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Muscular Diseases
Recent developments, utilization, and spending trends for pompe disease therapies.
Muscular Diseases
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Muscular Diseases
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
Muscular Diseases
Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid {alpha}-glucosidase Gene.
Muscular Diseases
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts.
Muscular Diseases
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
Muscular Diseases
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Muscular Diseases
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Muscular Diseases
[A case of Pompe disease treated with acid alpha-glucosidase]
Muscular Diseases
[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
Muscular Dystrophies
A family with pseudodeficiency of acid alpha-glucosidase.
Muscular Dystrophies
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
Neoplasm Metastasis
Inhibition of experimental metastasis by castanospermine in mice: blockage of two distinct stages of tumor colonization by oligosaccharide processing inhibitors.
Neoplasms
Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein.
Neoplasms
The alpha-glucosidase I inhibitor castanospermine alters endothelial cell glycosylation, prevents angiogenesis, and inhibits tumor growth.
Nephrotic Syndrome
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
Neuromuscular Diseases
Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease.
Neuromuscular Diseases
Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.
Neuromuscular Diseases
Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
Niemann-Pick Diseases
Alpha galactosidase A activity in Parkinson's disease.
Pancreatic Neoplasms
Suppression of lysosomal acid alpha-glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer.
pullulanase deficiency
Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.
Respiratory Insufficiency
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Respiratory Insufficiency
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Respiratory Insufficiency
Late-onset Glycogen Storage Disease type 2.
Respiratory Insufficiency
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Respiratory Insufficiency
Non-muscle involvement in late-onset glycogenosis II.
Respiratory Insufficiency
Physiological Correction of Pompe Disease by Systemic Delivery of Adeno-associated Virus Serotype 1 Vectors.
Respiratory Insufficiency
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
Respiratory Insufficiency
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Respiratory Insufficiency
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Respiratory Insufficiency
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Respiratory Insufficiency
[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]
Sarcoma
Inhibition of glycosylation processing alters the growth parameters of cells transformed by the oncogene of simian sarcoma virus.
Speech Disorders
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.
Spinocerebellar Ataxias
Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.
Spinocerebellar Ataxias
Voiding Dysfunction in Spinocerebellar Ataxia Type 31.
Starvation
Heterogeneity of glycogen synthesis upon refeeding following starvation.
Starvation
Processing and secretion of lysosomal acid alpha-glucosidase in Tetrahymena wild type and secretion-deficient mutant cells.
Vesicular Stomatitis
Inhibition of N-linked oligosaccharide trimming does not interfere with surface expression of certain integral membrane proteins.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.