Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons

Novel mutations in 13 probands with galactokinase deficiency.

Human mutation·2000

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

American journal of human genetics·1999

Molecular diagnosis of type 1c glycogen storage disease.

Human genetics·1999

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

Human genetics·1999

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.

European journal of pediatrics·1998

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

The Journal of clinical investigation·1998

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

Journal of inherited metabolic disease·2026

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Journal of inherited metabolic disease·2026

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Journal of inherited metabolic disease·2026

Enantioselective effects of dinotefuran on oxidative stress and energy metabolism in HepG2 cells.

Journal of environmental sciences (China)·2026

Ubiquitin chain editing promotes p97/VCP-dependent removal of RPA from DNA.

Molecular cell·2026

Synthesis of the Natural Product Berberine.

ACS omega·2026

Fatty acid synthesis restricts HIV-1 infection through regulation of the nuclear envelope in CD4+ T cells.

bioRxiv : the preprint server for biology·2026

Engineering circular RNA expression systems to minimize contaminating linear RNA byproducts.

bioRxiv : the preprint server for biology·2026

Depletion of the isocitrate dehydrogenase 3 subunit IDHA-1 licenses germ cell-to-neuron direct reprogramming.

bioRxiv : the preprint server for biology·2026

Related Experiment Videos

Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons

Related Concept Videos

Novel mutations in 13 probands with galactokinase deficiency.

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Molecular diagnosis of type 1c glycogen storage disease.

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Enantioselective effects of dinotefuran on oxidative stress and energy metabolism in HepG2 cells.

Ubiquitin chain editing promotes p97/VCP-dependent removal of RPA from DNA.

Synthesis of the Natural Product Berberine.

Fatty acid synthesis restricts HIV-1 infection through regulation of the nuclear envelope in CD4+ T cells.

Engineering circular RNA expression systems to minimize contaminating linear RNA byproducts.

Depletion of the isocitrate dehydrogenase 3 subunit IDHA-1 licenses germ cell-to-neuron direct reprogramming.

Related Experiment Videos

Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons

Related Concept Videos

Related Articles