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Disease on EC 3.2.1.106 - mannosyl-oligosaccharide glucosidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
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.
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.
Differential effects of 1-deoxynojirimycin on the intracellular transport of secretory glycoproteins of human hepatoma cells in culture.
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.
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
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.
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.
Enzyme replacement therapy in the mouse model of Pompe disease.
Fractures in children with Pompe disease: a potential long-term complication.
Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
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.
Long-term outcome and unmet needs in infantile-onset Pompe disease.
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
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.
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections.
Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants.
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects.
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
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.
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.
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.
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Mobility assessment using wearable technology in patients with late-onset Pompe disease.
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.
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.
Clinical features of Pompe disease.
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Developmental study of alpha-glucosidases in Japanese quails with acid maltase deficiency.
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).
Infantile and adult-onset acid maltase deficiency occurring in the same family.
Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase 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.
A family with pseudodeficiency of acid alpha-glucosidase.
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
A review of treatment of Pompe disease in infants.
A simple differential immunoprecipitation assay of urinary acid and neutral alpha-glucosidases for glycogenosis 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).
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe 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.
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice.
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
Biochemical, immunological, and cell genetic studies in glycogenosis type II.
Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).
Bovine generalised glycogenosis type II. Uptake of lysosomal alpha-glucosidase by cultured skeletal muscle and reversal of glycogen accumulation.
Bovine glycogenosis type II: the molecular defect in Shorthorn cattle.
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
Clinical features of Pompe disease.
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.
Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis 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.
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.
Effects of N-hydroxyethyl-1-deoxynojirimycin (BAY m 1099) on the activity of neutral- and acid alpha-glucosidases in human fibroblasts and HepG2 cells.
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
Enzyme replacement therapy in severe adult-onset 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.
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.
First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
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. Studies related to the mechanism of glycogenosome formation.
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Hematopoietic contribution to skeletal muscle regeneration in acid alpha-glucosidase knockout mice.
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
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.
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with 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.
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).
Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease.
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe 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.
Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
Increased aortic stiffness in glycogenosis type 2 (Pompe's 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.
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
Isolation and characterization of three alpha-glucosidases from the Japanese quail.
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Late-onset Glycogen Storage Disease type 2.
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Leucocyte alpha-1,4- and alpha-1,6-glucosidase activities towards oligosaccharides in late onset glycogenosis type II.
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase.
Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Molecular Approaches for the Treatment of Pompe Disease.
Molecular genetics of late onset glycogen storage disease II in Italy.
Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Non-muscle involvement in late-onset glycogenosis 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.
Partial characterization of leucocyte alpha-glucosidase in late onset glycogenosis 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.
Physico-chemical and immunological properties of acid alpha-glucosidase from various human tissues in relation to glycogenosis type II (Pompe's disease).
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Possibilities for the cytochemical diagnosis of enzymopathies.
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Recombinant human acid alpha-glucosidase generated in bacteria: antigenic, but enzymatically inactive.
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
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.
Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase.
Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe 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.
Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
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.
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.
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.
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Two cases of Pompe's disease: case report and review of literature.
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts.
[A new phenotype of infantile-onset Pompe disease].
[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity.]
[Glycogenosis type II; acid alpha-glucosidase deficiency]
[Pompe's disease--acid alpha-glucosidase deficiency--a review]
[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.
36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.
?2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
A family with pseudodeficiency of acid alpha-glucosidase.
A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations.
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease.
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
A review of treatment of Pompe disease in infants.
A Senile Case of Late-onset Pompe's Disease.
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe 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).
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Acid alpha-glucosidase deficiency (Pompe disease).
Acid alpha-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid alpha-glucosidase.
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study.
Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.
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.
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
Advances in diagnosis and management of Pompe disease.
Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice.
Airway smooth muscle dysfunction in Pompe (Gaa-/-) mice.
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.
Ampakines Stimulate Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease.
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease.
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.
Autophagy and lysosomes in Pompe disease.
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.
B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease.
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
Biochemical, immunological, and cell genetic studies in glycogenosis type II.
Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).
Bovine generalised glycogenosis type II. Uptake of lysosomal alpha-glucosidase by cultured skeletal muscle and reversal of glycogen accumulation.
Bovine glycogenosis type II: the molecular defect in Shorthorn cattle.
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.
Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.
Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
Cardiac outcome in classic infantile Pompe disease after 13?years of treatment with recombinant human acid alpha-glucosidase.
Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.
Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice.
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.
Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease.
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
Chagasic cardiomyopathy and Pompe disease: case report.
Challenges in treating Pompe disease: an industry perspective.
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.
Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Clinical Analysis of Algerian Patients with Pompe Disease.
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
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.
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
Clinical features of Pompe disease.
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease.
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.
Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.
Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report.
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice.
Consensus treatment recommendations for late-onset Pompe disease.
Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.
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.
Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.
Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Deconstructing pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...''.
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.
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature.
Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method.
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.
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease.
Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.
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.
Development of ImmTOR Tolerogenic Nanoparticles for the Mitigation of Anti-drug Antibodies.
Developmental study of alpha-glucosidases in Japanese quails with acid maltase deficiency.
Diagnosis of glycogenosis 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.
Diagnostic tools in late onset Pompe disease (LOPD).
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease.
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study.
Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study.
Effects of N-hydroxyethyl-1-deoxynojirimycin (BAY m 1099) on the activity of neutral- and acid alpha-glucosidases in human fibroblasts and HepG2 cells.
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis 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.
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase.
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase.
Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease.
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.
Enzyme replacement therapy for infantile-onset Pompe disease.
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
Enzyme replacement therapy in severe adult-onset 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.
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning.
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Expansion of immature, nucleated red blood cells by transient low-dose methotrexate immune tolerance induction in mice.
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease.
Feasibility Study for Bedside Production of Recombinant Human Acid ?-Glucosidase: Technical and Financial Considerations.
Fiber type conversion by PGC-1? activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.
First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
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.
Fractures in children with Pompe disease: a potential long-term complication.
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Genetic counseling in Pompe disease.
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.
Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease.
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
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 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.
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Hematopoietic contribution to skeletal muscle regeneration in acid alpha-glucosidase knockout mice.
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
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.
High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology.
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's 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.
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Human amniotic fluid alpha-glucosidase.
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of 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.
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).
Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease.
Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report.
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model.
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
Immunohistochemical demonstration of acid alpha-glucosidase in muscle in Pompe's disease.
Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.
Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease.
Immunomodulatory, liver depot gene therapy for Pompe 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.
Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease.
Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.
Increased aortic stiffness in glycogenosis type 2 (Pompe's 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.
Infantile and adult-onset acid maltase deficiency occurring in the same family.
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid ?-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
Isolation and characterization of three alpha-glucosidases from the Japanese quail.
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.
Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Leucocyte alpha-1,4- and alpha-1,6-glucosidase activities towards oligosaccharides in late onset glycogenosis type II.
Lipidic Nanoparticles Comprising Phosphatidylinositol Mitigate Immunogenicity and Improve Efficacy of Recombinant Human Acid Alpha-Glucosidase in a Murine Model of Pompe Disease.
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
Long-Term Interruption of Enzyme Replacement Therapy with rhGAA in Pompe Disease Leads to Irreversible Clinical Decline.
Long-term outcome and unmet needs in infantile-onset Pompe disease.
Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density.
Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor.
Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
Mobility assessment using wearable technology in patients with late-onset Pompe disease.
Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells.
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Molecular Approaches for the Treatment of Pompe Disease.
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Molecular genetics of late onset glycogen storage disease II in Italy.
Molecular genetics of Pompe disease: a comprehensive overview.
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
Monitoring cardiac function by B-type natriuretic peptide (BNP) in patients with infantile Pompe's disease treated with recombinant alpha-glucosidase.
Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.
Natural bone marrow transplantation in cattle with Pompe's disease.
Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.
New GAA mutations in Japanese patients with GSDII (Pompe disease).
New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
Newborn screening for Pompe disease in Japan.
Newborn screening: Taiwanese experience.
Non-muscle involvement in late-onset glycogenosis II.
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
Novel method for detection of glycogen in cells.
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model.
Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe 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.
Partial characterization of leucocyte alpha-glucosidase in late onset glycogenosis 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.
Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development.
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.
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.
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.
Phosphatidylserine Converts Immunogenic Recombinant Human Acid Alpha-Glucosidase to a Tolerogenic Form in a Mouse Model of Pompe Disease.
Phosphatidylserine Is Not Just a Cleanup Crew but Also a Well-Meaning Teacher.
Physical therapy management of Pompe disease.
Physico-chemical and immunological properties of acid alpha-glucosidase from various human tissues in relation to glycogenosis type II (Pompe's disease).
Physiological Correction of Pompe Disease by Systemic Delivery of Adeno-associated Virus Serotype 1 Vectors.
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Pompe disease gene therapy.
Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Pompe disease: a neuromuscular disease with respiratory muscle involvement.
Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.
Pompe disease: from pathophysiology to therapy and back again.
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Pompe disease: what are we missing?
Pompe's disease.
Pompe's disease: diagnosis in kidney and leucocytes using 4-methylumbelliferyl-alpha-D-glucopyranoside.
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.
Preclinical Toxicology and Biodistribution Studies of Recombinant Adeno-Associated Virus 1 Human Acid ?-Glucosidase.
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Pregnancy Outcomes in Late Onset Pompe Disease.
Profiles of plant core-fucosylated N-glycans of acid alpha-glucosidases produced in transgenic rice cell suspension cultures treated with eight different conditions.
Progress and challenges of gene therapy for Pompe disease.
Purification of recombinant human precursor acid alpha-glucosidase.
Quantitative computed tomography for enzyme replacement therapy in Pompe disease.
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Recombinant human acid alpha-glucosidase generated in bacteria: antigenic, but enzymatically inactive.
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe 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.
Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature.
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase.
Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
Role of autophagy in the pathogenesis of Pompe disease.
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Salmeterol enhances the cardiac response to gene therapy in Pompe disease.
Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).
Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
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.
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.
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
Skeletal muscle magnetic resonance imaging in Pompe disease.
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue.
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Subcellular distribution of acid alpha-glucosidase in fibroblasts and of antigenically cross-reactive material in Pompe's disease fibroblasts.
Successful combined liver/kidney transplantation from a donor with Pompe disease.
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease.
Surprises of genetic engineering: a possible model of polyglucosan body disease.
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease.
Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe 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.
Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice.
The effect of age on biochemical and morphological changes in the semitendinosus muscle of cattle with generalized glycogenosis type II.
The First Year Experience of Newborn Screening for Pompe Disease in California.
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
The infantile-onset form of Pompe disease: an autopsy diagnosis.
The natural course of non-classic Pompe's disease; a review of 225 published cases.
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
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.
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts.
The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Two cases of Pompe's disease: case report and review of literature.
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.
Uptake of moss-derived human recombinant GAA in Gaa -/- mice.
Use of immobilized antibodies in investigating acid alpha-glucosidase in urine in relation to Pompe's disease.
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts.
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.
[A case of Pompe disease treated with acid alpha-glucosidase]
[A new phenotype of infantile-onset Pompe disease].
[Acid alpha-glucosidase deficiency: Pompe's disease]
[Adult form of Pompe disease]
[Adult Pompe disease with normal acid alpha-glucosidase activity in leukocytes]
[Argentine consensus on late-onset Pompe's disease].
[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]
[Clinical development of acid alpha-glucosidase for the treatment of Pompe disease]
[Enzyme replacement therapy in a patient with Pompe disease]
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity.]
[Glycogenosis type II; acid alpha-glucosidase deficiency]
[New approaches for the treatment of metabolic myopathies]
[Pompe's disease--acid alpha-glucosidase deficiency--a review]
[Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].
[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease].
[Therapy for myopathies: from management to genetic treatment: introductory remarks]
[Thymic neuroendocrine carcinoma with Pompe's disease of the adult].
[Treatment of Pompe's disease with recombinant enzymes]
[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
[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 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.
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.
Inhibition of N-linked oligosaccharide trimming does not interfere with surface expression of certain integral membrane proteins.
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.
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).
Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Chagasic cardiomyopathy and Pompe disease: case report.
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
Glycogenosome accumulation in the arrector pili muscle in Pompe 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.
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts.
[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.
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Acid alpha-glucosidase deficiency (Pompe disease).
Acid alpha-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid alpha-glucosidase.
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study.
Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
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.
Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report.
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature.
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Human amniotic fluid alpha-glucosidase.
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.
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells.
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
Neutral oligosaccharides in the urine of a patient with glycogen storage disease type II.
Newborn screening: Taiwanese experience.
Non-muscle involvement in late-onset glycogenosis II.
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development.
Pompe's disease.
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
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.
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
[Acid alpha-glucosidase deficiency: Pompe's disease]
[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]
[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.
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.
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.
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in 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.
In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.
Long-term outcome and unmet needs in infantile-onset Pompe disease.
Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction.
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis 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.
Skeletal muscle magnetic resonance imaging in Pompe disease.
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
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.
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Autophagy and lysosomes in Pompe disease.
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Clinical Analysis of Algerian Patients with Pompe Disease.
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Deconstructing pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...''.
Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
Enzyme replacement therapy in the mouse model of Pompe disease.
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Fiber type conversion by PGC-1? activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.
Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
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.
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's 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).
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density.
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Pompe disease gene therapy.
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Recent developments, utilization, and spending trends for pompe disease therapies.
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
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.
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts.
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
[A case of Pompe disease treated with acid alpha-glucosidase]
[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.
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.
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.
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.
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.
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Late-onset Glycogen Storage Disease type 2.
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Non-muscle involvement in late-onset glycogenosis II.
Physiological Correction of Pompe Disease by Systemic Delivery of Adeno-associated Virus Serotype 1 Vectors.
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
[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.
Voiding Dysfunction in Spinocerebellar Ataxia Type 31.
Starvation
Heterogeneity of glycogen synthesis upon refeeding following 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.