Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 2.7.1.30 - glycerol kinase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
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.
Moonlighting function of glycerol kinase causes systems-level changes in rat hepatoma cells.
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.
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.
Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases.
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.
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency.
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.
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.
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.
Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
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.
A case with the infantile type of glycerol kinase deficiency.
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
Adrenal dysfunction in 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.
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign 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.
Asthma as the first presenting symptom of complex glycerol kinase deficiency.
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Characterization of deletions in the dystrophin gene giving mild phenotypes.
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
Cholestasis and Hepatic Iron Deposition in an Infant With Complex 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.
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated 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.
Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
Comparison of triglyceride concentration with lipemic index in disorders of triglyceride and glycerol metabolism.
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.
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
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).
Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate.
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males.
Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita.
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
Congenital adrenal hypoplasia and glycerol kinase deficiency.
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
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.
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
Disruption of Glycerol Metabolism by RNAi Targeting of Genes Encoding Glycerol Kinase Results in a Range of Phenotype Severity in Drosophila.
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram but not congenital stationary night blindness.
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Dysmorphic features in patients with complex glycerol kinase deficiency.
Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
Fluorescence in situ hybridization establishes the order cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel in human chromosome Xp21.3.
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.
Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.
Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells.
Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
Glycerol kinase deficiency and adrenal hypoplasia congenita.
Glycerol kinase deficiency in adult hypoglycemic acidemia.
Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Glycerol kinase deficiency in two brothers with and without clinical manifestations.
Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis.
Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia.
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity.
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies.
Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics.
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
Human glycerol kinase deficiency: an inborn error of compartmental metabolism.
Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization.
Hyperketonaemia in glycerol kinase deficiency.
Hypertriglyceridaemia unresponsive to multiple treatments.
Identification of new markers in Xp21 between DXS28 (C7) and DMD.
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
Isolated and contiguous glycerol kinase gene disorders: a review.
Isolated glycerol kinase deficiency and Fanconi anemia.
Isolated glycerol kinase deficiency in a neonate.
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship?
Lethal hypoglycemic ketosis and glyceroluria in mice lacking both the mitochondrial and the cytosolic glycerol phosphate dehydrogenases.
Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia.
Modifier genes: Moving from pathogenesis to therapy.
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
Mutations and phenotype in isolated glycerol kinase deficiency.
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency.
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
Old syndromes and new cytogenetics.
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
Pseudo-hypertriglyceridaemia: a measurement artefact due to glycerol kinase deficiency.
Pseudo-pseudohypertriglyceridemia: a case of increased free glycerol without evidence for glycerol kinase deficiency.
Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications.
Pseudohypertriglyceridemia: two cases of probable glycerol kinase deficiency.
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex 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.
Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy.
Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.
The Colorado mental retardation and developmental disabilities research center.
The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency.
Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency.
Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice.
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
[Complex glycerol kinase deficiency in three children]
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation.]
[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]
[Glycerol kinase deficiency in adult patient: hypertriglyceridemia resistance to diet and pharmacological treatment].
[Glycerol kinase deficiency with dystrophinopathy]
[Glycerol kinase deficiency]
[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency]
[Pseudo-hypertriglyceridemia caused by glycerol kinase deficiency]
[Pseudohypertriglyceridemia due to hyperglycerolemia caused by glycerol kinase deficiency]
[Pseudohypertriglyceridemia in glycerokinase deficiency]
[Recurrent anorexia and pigmentation of skin for more than two months in an infant].
[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.
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.
Hyperinsulinemia and fat cell glycerokinase activity in obese (ob/ob) and diabetic (db/db) mice.
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.
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.
A multiplex assay for the detection and mapping of complex 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.
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
Asthma as the first presenting symptom of complex glycerol kinase deficiency.
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.
Cholestasis and Hepatic Iron Deposition in an Infant With Complex 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.
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
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).
Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate.
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males.
Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita.
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
Congenital adrenal hypoplasia and glycerol kinase deficiency.
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram but not congenital stationary night blindness.
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Dysmorphic features in patients with complex glycerol kinase deficiency.
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies.
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
Isolated glycerol kinase deficiency in a neonate.
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship?
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency.
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.
Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency.
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
[Complex glycerol kinase deficiency in three children]
[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation.]
[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]
[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency]
[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.
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Old syndromes and new cytogenetics.
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.
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
Implications of Aquaglyceroporin 7 in Energy Metabolism.
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.
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).
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
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.
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
[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
Arsenolipids.
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.
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.
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.
Isolated glycerol kinase deficiency in a neonate.
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
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.
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]
[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.
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.
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
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.
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
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.
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning.
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).
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita.
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
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.
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Dysmorphic features in patients with complex glycerol kinase deficiency.
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
Fluorescence in situ hybridization establishes the order cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel in human chromosome Xp21.3.
Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Identification of new markers in Xp21 between DXS28 (C7) and DMD.
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
Isolated and contiguous glycerol kinase gene disorders: a review.
Isolated glycerol kinase deficiency in a neonate.
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Isolation of the human Xp21 glycerol kinase gene by positional cloning.
Modifier genes: Moving from pathogenesis to therapy.
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Old syndromes and new cytogenetics.
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy.
The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency.
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci.
Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
[Complex glycerol kinase deficiency in three children]
[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.
Arsenolipids.
Hypoglycemia with glycerol salvage: a role in anti-neoplastic therapy?
Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane.
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.
Aquaporin 7 deficiency is associated with development of obesity through activation of adipose glycerol kinase.
Aquaporin-7 and glycerol permeability as novel obesity drug-target pathways.
Enhanced utilization of glycerol for glyceride synthesis in isolated adipocytes from early pregnant rats.
Glycerokinase activity in human adipose tissue as related to obesity.
Glycerokinase in human adipose tissue.
Implications of Aquaglyceroporin 7 in Energy Metabolism.
Improved systemic metabolism and adipocyte biology in miR-150 knockout mice.
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.
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.
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.
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome.
Tuberculosis
Common Variants in the Glycerol Kinase Gene Reduce Tuberculosis Drug Efficacy.
[Changes in enzyme systems and lipogenesis metabolites in experimental tuberculosis]