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Adenoma
Glycerol kinase activity in adenoma alveolar type II cells.
Adrenal Insufficiency
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
Adrenal Insufficiency
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
Adrenal Insufficiency
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Adrenal Insufficiency
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
Adrenal Insufficiency
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Adrenal Insufficiency
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
Adrenal Insufficiency
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
Adrenal Insufficiency
Isolated glycerol kinase deficiency in a neonate.
Albinism
Old syndromes and new cytogenetics.
Alcohol-Related Disorders
The Alcohol Skills Training Program: a group intervention for young adult drinkers.
Angioedemas, Hereditary
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
Anosmia
Old syndromes and new cytogenetics.
Apnea
Isolated glycerol kinase deficiency in a neonate.
Asthma
Asthma as the first presenting symptom of complex glycerol kinase deficiency.
Carcinogenesis
Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases.
Carcinoma, Hepatocellular
Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells.
Carcinoma, Hepatocellular
Moonlighting function of glycerol kinase causes systems-level changes in rat hepatoma cells.
Carcinoma, Hepatocellular
Proportional activities of glycerol kinase and glycerol 3-phosphate dehydrogenase in rat hepatomas.
Cholestasis
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.
Chondrodysplasia Punctata
Old syndromes and new cytogenetics.
Coffin-Lowry Syndrome
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.
Dehydration
A novel method for determining rate constants for dehydration of aldehyde hydrates.
Dehydration
Glycerol-insensitive Arabidopsis mutants: gli1 seedlings lack glycerol kinase, accumulate glycerol and are more resistant to abiotic stress.
Dermatitis, Atopic
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship?
Diabetes Mellitus
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
Diabetes Mellitus
Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases.
Diabetes Mellitus
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency.
Diabetes Mellitus, Type 2
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
Diabetes Mellitus, Type 2
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency.
Diabetes Mellitus, Type 2
Virtual metabolic human dynamic model for pathological analysis and therapy design for diabetes.
Diabetes, Gestational
Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.
Diabetes, Gestational
Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications.
Dyslexia
The Colorado mental retardation and developmental disabilities research center.
electron-transferring-flavoprotein dehydrogenase deficiency
The Colorado mental retardation and developmental disabilities research center.
Epstein-Barr Virus Infections
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
Esotropia
Dysmorphic features in patients with complex glycerol kinase deficiency.
Eye Diseases
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Eye Diseases
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Fanconi Anemia
Isolated glycerol kinase deficiency and Fanconi anemia.
Fibrosarcoma
A community-based lung cancer rapid tissue donation protocol provides high-quality drug-resistant specimens for proteogenomic analyses.
Fructose Intolerance
Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases.
Genetic Diseases, Inborn
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
Genetic Diseases, Inborn
Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Genetic Diseases, Inborn
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
Genetic Diseases, Inborn
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
Genetic Diseases, X-Linked
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
Glioblastoma
MicroRNA-135b exerts oncogenic activity in glioblastoma via the inhibition of glycerol kinase 5 expression.
glycerol kinase deficiency
1-Thioglycerol: inhibitor of glycerol kinase activity in vitro and in situ.
glycerol kinase deficiency
A case with the infantile type of glycerol kinase deficiency.
glycerol kinase deficiency
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.
glycerol kinase deficiency
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
glycerol kinase deficiency
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
glycerol kinase deficiency
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
glycerol kinase deficiency
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
glycerol kinase deficiency
Adrenal dysfunction in glycerol kinase deficiency.
glycerol kinase deficiency
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
glycerol kinase deficiency
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
glycerol kinase deficiency
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
glycerol kinase deficiency
Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.
glycerol kinase deficiency
Asthma as the first presenting symptom of complex glycerol kinase deficiency.
glycerol kinase deficiency
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
glycerol kinase deficiency
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
glycerol kinase deficiency
Characterization of deletions in the dystrophin gene giving mild phenotypes.
glycerol kinase deficiency
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
glycerol kinase deficiency
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.
glycerol kinase deficiency
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
glycerol kinase deficiency
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
glycerol kinase deficiency
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
glycerol kinase deficiency
Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
glycerol kinase deficiency
Comparison of triglyceride concentration with lipemic index in disorders of triglyceride and glycerol metabolism.
glycerol kinase deficiency
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
glycerol kinase deficiency
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
glycerol kinase deficiency
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
glycerol kinase deficiency
Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate.
glycerol kinase deficiency
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
glycerol kinase deficiency
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.
glycerol kinase deficiency
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males.
glycerol kinase deficiency
Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita.
glycerol kinase deficiency
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
glycerol kinase deficiency
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
glycerol kinase deficiency
Congenital adrenal hypoplasia and glycerol kinase deficiency.
glycerol kinase deficiency
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
glycerol kinase deficiency
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
glycerol kinase deficiency
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
glycerol kinase deficiency
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
glycerol kinase deficiency
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
glycerol kinase deficiency
DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
glycerol kinase deficiency
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
glycerol kinase deficiency
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
glycerol kinase deficiency
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
glycerol kinase deficiency
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
glycerol kinase deficiency
Disruption of Glycerol Metabolism by RNAi Targeting of Genes Encoding Glycerol Kinase Results in a Range of Phenotype Severity in Drosophila.
glycerol kinase deficiency
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
glycerol kinase deficiency
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
glycerol kinase deficiency
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
glycerol kinase deficiency
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
glycerol kinase deficiency
Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram but not congenital stationary night blindness.
glycerol kinase deficiency
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
glycerol kinase deficiency
Dysmorphic features in patients with complex glycerol kinase deficiency.
glycerol kinase deficiency
Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.
glycerol kinase deficiency
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
glycerol kinase deficiency
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
glycerol kinase deficiency
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
glycerol kinase deficiency
Fluorescence in situ hybridization establishes the order cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel in human chromosome Xp21.3.
glycerol kinase deficiency
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
glycerol kinase deficiency
Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.
glycerol kinase deficiency
Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.
glycerol kinase deficiency
Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells.
glycerol kinase deficiency
Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.
glycerol kinase deficiency
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
glycerol kinase deficiency
Glycerol kinase deficiency and adrenal hypoplasia congenita.
glycerol kinase deficiency
Glycerol kinase deficiency in adult hypoglycemic acidemia.
glycerol kinase deficiency
Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
glycerol kinase deficiency
Glycerol kinase deficiency in two brothers with and without clinical manifestations.
glycerol kinase deficiency
Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis.
glycerol kinase deficiency
Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia.
glycerol kinase deficiency
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
glycerol kinase deficiency
Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity.
glycerol kinase deficiency
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
glycerol kinase deficiency
Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
glycerol kinase deficiency
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
glycerol kinase deficiency
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies.
glycerol kinase deficiency
Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics.
glycerol kinase deficiency
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
glycerol kinase deficiency
Human glycerol kinase deficiency: an inborn error of compartmental metabolism.
glycerol kinase deficiency
Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization.
glycerol kinase deficiency
Hyperketonaemia in glycerol kinase deficiency.
glycerol kinase deficiency
Hypertriglyceridaemia unresponsive to multiple treatments.
glycerol kinase deficiency
Identification of new markers in Xp21 between DXS28 (C7) and DMD.
glycerol kinase deficiency
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
glycerol kinase deficiency
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
glycerol kinase deficiency
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
glycerol kinase deficiency
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
glycerol kinase deficiency
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
glycerol kinase deficiency
Isolated and contiguous glycerol kinase gene disorders: a review.
glycerol kinase deficiency
Isolated glycerol kinase deficiency and Fanconi anemia.
glycerol kinase deficiency
Isolated glycerol kinase deficiency in a neonate.
glycerol kinase deficiency
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
glycerol kinase deficiency
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
glycerol kinase deficiency
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship?
glycerol kinase deficiency
Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases.
glycerol kinase deficiency
Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia.
glycerol kinase deficiency
Modifier genes: Moving from pathogenesis to therapy.
glycerol kinase deficiency
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
glycerol kinase deficiency
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
glycerol kinase deficiency
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
glycerol kinase deficiency
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
glycerol kinase deficiency
Mutations and phenotype in isolated glycerol kinase deficiency.
glycerol kinase deficiency
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
glycerol kinase deficiency
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
glycerol kinase deficiency
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency.
glycerol kinase deficiency
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
glycerol kinase deficiency
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
glycerol kinase deficiency
Old syndromes and new cytogenetics.
glycerol kinase deficiency
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
glycerol kinase deficiency
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
glycerol kinase deficiency
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.
glycerol kinase deficiency
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
glycerol kinase deficiency
Pseudo-hypertriglyceridaemia: a measurement artefact due to glycerol kinase deficiency.
glycerol kinase deficiency
Pseudo-pseudohypertriglyceridemia: a case of increased free glycerol without evidence for glycerol kinase deficiency.
glycerol kinase deficiency
Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications.
glycerol kinase deficiency
Pseudohypertriglyceridemia: two cases of probable glycerol kinase deficiency.
glycerol kinase deficiency
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
glycerol kinase deficiency
Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode.
glycerol kinase deficiency
Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy.
glycerol kinase deficiency
Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.
glycerol kinase deficiency
The Colorado mental retardation and developmental disabilities research center.
glycerol kinase deficiency
The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency.
glycerol kinase deficiency
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency.
glycerol kinase deficiency
Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.
glycerol kinase deficiency
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
glycerol kinase deficiency
Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice.
glycerol kinase deficiency
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
glycerol kinase deficiency
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
glycerol kinase deficiency
[Complex glycerol kinase deficiency in three children]
glycerol kinase deficiency
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation.]
glycerol kinase deficiency
[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]
glycerol kinase deficiency
[Glycerol kinase deficiency in adult patient: hypertriglyceridemia resistance to diet and pharmacological treatment].
glycerol kinase deficiency
[Glycerol kinase deficiency with dystrophinopathy]
glycerol kinase deficiency
[Glycerol kinase deficiency]
glycerol kinase deficiency
[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency]
glycerol kinase deficiency
[Pseudo-hypertriglyceridemia caused by glycerol kinase deficiency]
glycerol kinase deficiency
[Pseudohypertriglyceridemia due to hyperglycerolemia caused by glycerol kinase deficiency]
glycerol kinase deficiency
[Pseudohypertriglyceridemia in glycerokinase deficiency]
glycerol kinase deficiency
[Recurrent anorexia and pigmentation of skin for more than two months in an infant].
glycerol kinase deficiency
[Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia]
Granulomatous Disease, Chronic
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
Granulomatous Disease, Chronic
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Hyperglycemia
Adipose tissue glycerokinase activity in genetic and acquired obesity in rats and mice.
Hyperinsulinism
Adipose tissue glycerokinase activity in genetic and acquired obesity in rats and mice.
Hyperinsulinism
Hyperinsulinemia and fat cell glycerokinase activity in obese (ob/ob) and diabetic (db/db) mice.
Hyperinsulinism
Origin of endocrine-metabolic changes in the weanling rat ventromedial syndrome.
Hypersensitivity
Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.
Hypertelorism
Dysmorphic features in patients with complex glycerol kinase deficiency.
Hypertriglyceridemia
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.
Hypertriglyceridemia
Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Hypoadrenocorticism, Familial
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
Hypoadrenocorticism, Familial
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Hypoadrenocorticism, Familial
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Hypoadrenocorticism, Familial
Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Hypoadrenocorticism, Familial
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
Hypoadrenocorticism, Familial
Asthma as the first presenting symptom of complex glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.
Hypoadrenocorticism, Familial
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency.
Hypoadrenocorticism, Familial
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Hypoadrenocorticism, Familial
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate.
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males.
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita.
Hypoadrenocorticism, Familial
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Hypoadrenocorticism, Familial
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
Hypoadrenocorticism, Familial
Congenital adrenal hypoplasia and glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Hypoadrenocorticism, Familial
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Hypoadrenocorticism, Familial
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Hypoadrenocorticism, Familial
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Hypoadrenocorticism, Familial
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
Hypoadrenocorticism, Familial
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Hypoadrenocorticism, Familial
Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram but not congenital stationary night blindness.
Hypoadrenocorticism, Familial
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Hypoadrenocorticism, Familial
Dysmorphic features in patients with complex glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
Hypoadrenocorticism, Familial
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
Hypoadrenocorticism, Familial
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Hypoadrenocorticism, Familial
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies.
Hypoadrenocorticism, Familial
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Hypoadrenocorticism, Familial
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
Hypoadrenocorticism, Familial
Isolated glycerol kinase deficiency in a neonate.
Hypoadrenocorticism, Familial
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship?
Hypoadrenocorticism, Familial
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Hypoadrenocorticism, Familial
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Hypoadrenocorticism, Familial
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Hypoadrenocorticism, Familial
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Hypoadrenocorticism, Familial
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.
Hypoadrenocorticism, Familial
Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.
Hypoadrenocorticism, Familial
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
Hypoadrenocorticism, Familial
The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency.
Hypoadrenocorticism, Familial
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Hypoadrenocorticism, Familial
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Hypoadrenocorticism, Familial
[Complex glycerol kinase deficiency in three children]
Hypoadrenocorticism, Familial
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation.]
Hypoadrenocorticism, Familial
[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]
Hypoadrenocorticism, Familial
[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency]
Hypoadrenocorticism, Familial
[Recurrent anorexia and pigmentation of skin for more than two months in an infant].
Hypoglycemia
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Hypogonadism
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Hypogonadism
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Hypogonadism
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Hypogonadism
Old syndromes and new cytogenetics.
Hypogonadism
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.
Ichthyosis
Old syndromes and new cytogenetics.
Insulin Resistance
Enhanced utilization of glycerol for glyceride synthesis in isolated adipocytes from early pregnant rats.
Insulin Resistance
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
Insulin Resistance
Implications of Aquaglyceroporin 7 in Energy Metabolism.
Insulin Resistance
Improved systemic metabolism and adipocyte biology in miR-150 knockout mice.
Insulinoma
Engineering of glycerol-stimulated insulin secretion in islet beta cells. Differential metabolic fates of glucose and glycerol provide insight into mechanisms of stimulus-secretion coupling.
Intellectual Disability
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Intellectual Disability
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
Intellectual Disability
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Intellectual Disability
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Intellectual Disability
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
Intellectual Disability
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Intellectual Disability
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
Intellectual Disability
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Intellectual Disability
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Intellectual Disability
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Intellectual Disability
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Intellectual Disability
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Intellectual Disability
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation.]
Kallmann Syndrome
Old syndromes and new cytogenetics.
Kearns-Sayre Syndrome
Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.
Leukemia, Promyelocytic, Acute
Arsenolipids.
Liver Diseases
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
Liver Failure, Acute
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
Liver Neoplasms, Experimental
Proportional activities of glycerol kinase and glycerol 3-phosphate dehydrogenase in rat hepatomas.
Lymphohistiocytosis, Hemophagocytic
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
Melanoma
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Mouth Neoplasms
Metabolomic analysis of human oral cancer cells with adenylate kinase 2 or phosphorylate glycerol kinase 1 inhibition.
Muscle Hypotonia
Isolated glycerol kinase deficiency in a neonate.
Muscle Weakness
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Muscular Diseases
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
Muscular Diseases
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Muscular Diseases
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Muscular Diseases
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
Muscular Diseases
Isolated glycerol kinase deficiency in a neonate.
Muscular Diseases
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Muscular Diseases
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Muscular Diseases
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.
Muscular Dystrophies
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.
Muscular Dystrophies
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Muscular Dystrophies
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Muscular Dystrophies
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Muscular Dystrophies
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Muscular Dystrophies
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
Muscular Dystrophies
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
Muscular Dystrophies
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Muscular Dystrophies
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Muscular Dystrophies
[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]
Muscular Dystrophies
[Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia]
Muscular Dystrophy, Duchenne
A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
Muscular Dystrophy, Duchenne
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.
Muscular Dystrophy, Duchenne
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
Muscular Dystrophy, Duchenne
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Muscular Dystrophy, Duchenne
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.
Muscular Dystrophy, Duchenne
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Muscular Dystrophy, Duchenne
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
Muscular Dystrophy, Duchenne
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Muscular Dystrophy, Duchenne
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
Muscular Dystrophy, Duchenne
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
Muscular Dystrophy, Duchenne
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
Muscular Dystrophy, Duchenne
Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita.
Muscular Dystrophy, Duchenne
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Muscular Dystrophy, Duchenne
Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.
Muscular Dystrophy, Duchenne
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Muscular Dystrophy, Duchenne
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
Muscular Dystrophy, Duchenne
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
Muscular Dystrophy, Duchenne
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
Muscular Dystrophy, Duchenne
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Muscular Dystrophy, Duchenne
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
Muscular Dystrophy, Duchenne
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Muscular Dystrophy, Duchenne
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Muscular Dystrophy, Duchenne
Dysmorphic features in patients with complex glycerol kinase deficiency.
Muscular Dystrophy, Duchenne
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
Muscular Dystrophy, Duchenne
Fluorescence in situ hybridization establishes the order cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel in human chromosome Xp21.3.
Muscular Dystrophy, Duchenne
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Muscular Dystrophy, Duchenne
Identification of new markers in Xp21 between DXS28 (C7) and DMD.
Muscular Dystrophy, Duchenne
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Muscular Dystrophy, Duchenne
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
Muscular Dystrophy, Duchenne
Isolated and contiguous glycerol kinase gene disorders: a review.
Muscular Dystrophy, Duchenne
Isolated glycerol kinase deficiency in a neonate.
Muscular Dystrophy, Duchenne
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Muscular Dystrophy, Duchenne
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
Muscular Dystrophy, Duchenne
Modifier genes: Moving from pathogenesis to therapy.
Muscular Dystrophy, Duchenne
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Muscular Dystrophy, Duchenne
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Muscular Dystrophy, Duchenne
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Muscular Dystrophy, Duchenne
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
Muscular Dystrophy, Duchenne
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Muscular Dystrophy, Duchenne
Old syndromes and new cytogenetics.
Muscular Dystrophy, Duchenne
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Muscular Dystrophy, Duchenne
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
Muscular Dystrophy, Duchenne
Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy.
Muscular Dystrophy, Duchenne
The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency.
Muscular Dystrophy, Duchenne
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Muscular Dystrophy, Duchenne
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
Muscular Dystrophy, Duchenne
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
Muscular Dystrophy, Duchenne
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Muscular Dystrophy, Duchenne
Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci.
Muscular Dystrophy, Duchenne
Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
Muscular Dystrophy, Duchenne
[Complex glycerol kinase deficiency in three children]
Muscular Dystrophy, Duchenne
[Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia]
Neoplasms
Adipocyte-selective reduction of the leptin receptors induced by antisense RNA leads to increased adiposity, dyslipidemia, and insulin resistance.
Neoplasms
Hypoglycemia with glycerol salvage: a role in anti-neoplastic therapy?
Neoplasms
Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane.
Neoplasms
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
Non-alcoholic Fatty Liver Disease
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
Obesity
Adipose tissue glycerokinase activity in genetic and acquired obesity in rats and mice.
Obesity
Aquaporin 7 deficiency is associated with development of obesity through activation of adipose glycerol kinase.
Obesity
Aquaporin-7 and glycerol permeability as novel obesity drug-target pathways.
Obesity
Enhanced utilization of glycerol for glyceride synthesis in isolated adipocytes from early pregnant rats.
Obesity
Glycerokinase activity in human adipose tissue as related to obesity.
Obesity
Glycerokinase in human adipose tissue.
Obesity
Implications of Aquaglyceroporin 7 in Energy Metabolism.
Obesity
Improved systemic metabolism and adipocyte biology in miR-150 knockout mice.
Obesity
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency.
ornithine carbamoyltransferase deficiency
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
Ornithine Carbamoyltransferase Deficiency Disease
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
Osteoporosis
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
Pancreatitis
[Impairment of glycerophosphate and glycerol turnover in myocardium under conditions of experimental pancreatitis]
Perinatal Death
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
phosphatidylcholine-sterol o-acyltransferase deficiency
Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.
prenyl-diphosphatase deficiency
Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode.
Retinitis Pigmentosa
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
Retinitis Pigmentosa
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Sarcoma, Avian
Evidence that the Rous sarcoma virus transforming gene product is associated with glycerol kinase activity.
Sphingolipidoses
The Colorado mental retardation and developmental disabilities research center.
Starvation
Genetic diversity and population structure of food-borne Staphylococcus carnosus strains.
Starvation
Role of glycerol 3-phosphate dehydrogenase in glyceride metabolism. Effect of diet on enzyme activities in chicken liver.
Stupor
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.
Stupor
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Tuberculosis
Common Variants in the Glycerol Kinase Gene Reduce Tuberculosis Drug Efficacy.
Tuberculosis
[Changes in enzyme systems and lipogenesis metabolites in experimental tuberculosis]
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2.7.1.30 glycerol kinase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
