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Last Updated: 10/31/2025

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Found 54 publications

Analysis of clinical characteristics in 4 pediatric cases of glycogen storage disease type Ⅸa

Analysis of clinical characteristics in 4 pediatric cases of glycogen storage disease type Ⅸa

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025

Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd.

Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd.

Journal: Surgical case reports
Published: April 24, 2025

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.

Journal: Genes
Published: April 15, 2025

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.

Journal: Archivos argentinos de pediatria
Published: April 01, 2025

Intersection of fragile X syndrome and glycogen storage disease models in metabolic neuromuscular junction requirements.

Intersection of fragile X syndrome and glycogen storage disease models in metabolic neuromuscular junction requirements.

Journal: Disease models & mechanisms
Published: November 01, 2024

Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.

Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.

Journal: Molecular genetics and metabolism
Published: October 23, 2024

Molecular basis for the regulation of human phosphorylase kinase by phosphorylation and Ca2.

Molecular basis for the regulation of human phosphorylase kinase by phosphorylation and Ca2.

Journal: Nature communications
Published: August 11, 2024

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Journal: Orphanet journal of rare diseases
Published: July 25, 2024

A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature.

A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature.

Journal: Journal of medical case reports
Published: February 09, 2024

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Journal: Clinical genetics
Published: January 10, 2024

Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX

Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX

Journal: Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
Published: May 30, 2023

Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease.

Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease.

Journal: JPGN reports
Published: March 02, 2023
Showing 1-12 of 54

Last Updated: 10/31/2025