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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)


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)