Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 56 publications

Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.

Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.

Journal: Science advances
Published: November 12, 2025

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

Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.

Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.

Journal: Hormones (Athens, Greece)
Published: November 22, 2024

Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.

Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.

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
Showing 1-12 of 56

Last Updated: 01/07/2026