Glycogen Storage Disease Type 9 Latest Advances

Journal: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis

Published: August 09, 2021

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 07, 2021

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 16, 2021

Customize your search results with filters

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.

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.

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

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.

Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease.

Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.

A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.

Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.

Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.

Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease.

Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease.

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.