Research

The following links are for relatively recent (and free to download) publications in the field of Glycogen Storage Disease. This is by no means a comprehensive list of links. Additional links will be added as they are published and available for free download. If you are aware of such an article, please share and send us an email: [email protected]

Type 1a and 1b

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type Ia (GSDIa)Diagnosis and management of glycogen storage disease type 1: a practice guideline of the American College of Medical Genetics and Genomics (2014)Pregnancy in women with glycogen storage disease Ia and Ib (2014)Linkage of Glucose, Glycogen, Lactic Acid, Triglyceride, and Uric acid metabolism in glycogen storage disease type 1a: optimal therapy is frequent cornstarch feeding (2012)Characterization and pathogenesis of anemia in glycogen storage disease type 1a and 1b (2012)Bone Mineral Density in Glycogen Storage Disease type 1a and 1b (2012)Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib (2012)Pregnancy in Glycogen Storage Disease Type 1b: Gestational Care and Report of First Successful Deliveries (2010)

Type II

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation (2014)Newborn screening for pompe disease? a qualitative study exploring professional views (2014)

Type III

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series (2015)

Type V

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits (2014)

Type IX

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene (2014)Improvement in Cirrhosis Associated Glycogen Storage Disease IX with Aggressive Therapy (2013)Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI (2022)