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Last Updated: 10/31/2025
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Found 23 publications
Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).
Journal: Molecular genetics and metabolism
Published: November 25, 2024
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Journal: Orphanet journal of rare diseases
Published: August 16, 2024
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).
Journal: American journal of medical genetics. Part A
Published: July 02, 2024
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
PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.
Journal: Acta endocrinologica (Bucharest, Romania : 2005)
Published: May 08, 2020
Last Updated: 10/31/2025