Glycogen Storage Disease Type 0 Latest Advances

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.

Journal: Orphanet journal of rare diseases

Published: March 18, 2022

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.

Journal: The Journal of international medical research

Published: March 17, 2022

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Journal: Orphanet journal of rare diseases

Published: February 24, 2022

A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.

Journal: Neuromuscular disorders : NMD

Published: July 14, 2021

Case of diagnostics of a rare form of glycogen disease

Journal: Problemy endokrinologii

Published: September 16, 2020

Three successful pregnancies in a patient with glycogen storage disease type 0.

Journal: JIMD reports

Published: September 02, 2020

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Journal: The Journal of international medical research

Published: August 12, 2020

Ketotic hypoglycemia in patients with Down syndrome.

Journal: JIMD reports

Published: June 29, 2020

PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

Journal: Acta endocrinologica (Bucharest, Romania : 2005)

Published: May 08, 2020

Anesthetic Management for an Adult With Glycogen Storage Disease Type 0.

Journal: Anesthesia progress

Published: March 10, 2020

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Journal: JIMD reports

Published: September 27, 2019

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.

Journal: The Turkish journal of pediatrics

Published: January 01, 2018

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Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.

A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.

Case of diagnostics of a rare form of glycogen disease

Case of diagnostics of a rare form of glycogen disease

Three successful pregnancies in a patient with glycogen storage disease type 0.

Three successful pregnancies in a patient with glycogen storage disease type 0.

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Ketotic hypoglycemia in patients with Down syndrome.

Ketotic hypoglycemia in patients with Down syndrome.

PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

Anesthetic Management for an Adult With Glycogen Storage Disease Type 0.

Anesthetic Management for an Adult With Glycogen Storage Disease Type 0.

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.