Glycogen storage disease type VI with a novel PYGL mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference23 articles.
1. Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes;Kido;J Hum Genet,2013
2. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease);Burwinkel;Am J Hum Genet,1998
3. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI;Chang;Hum Mol Genet,1998
4. Safety and efficacy of chronic extended release cornstarch therapy for glycogen storage disease type I;Ross;JIMD Rep,2016
5. Enzymatic studies of hepatic fragments; application to the classification of glycogenoses;Hers;Revue internationale d’hepatologie,1959
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