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Canadian Association for Glycogen Storage Disease

Research

The following links are for recent (last five years/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: admin@CanadianAGSD.org

Type 1a and 1b

Diagnosis and management of glycogen storage disease type 1: a practice guideline of the American College of Medical Genetics and Genomics (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)