Glycogen Storage Disease Type 9 Latest Advances

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

Journal: Science advances

Published: November 12, 2025

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Journal: Orphanet journal of rare diseases

Published: August 05, 2025

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

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.

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.

Journal: Hormones (Athens, Greece)

Published: November 22, 2024

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.

Journal: Molecular genetics and metabolism

Published: October 23, 2024

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

Journal: Orphanet journal of rare diseases

Published: July 25, 2024

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Journal: European journal of clinical nutrition

Published: May 12, 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.

Journal: Journal of medical case reports

Published: February 09, 2024

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

Glycogen Storage Disease Type 9 Latest Advances

Find the Latest Research About Glycogen Storage Disease Type 9

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.

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

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

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.

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.

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.

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.

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.

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

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

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

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.

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