The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (<i>PYGL</i>), resulting in a deficiency of hepatic glycogen phosphorylase. We performed a systematic literature review in order to coll...

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Bibliographic Details
Main Authors: Sarah Catharina Grünert, Luciana Hannibal, Ute Spiekerkoetter
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
glycogen storage disease
GSD
PYGL
hepatic cirrhosis
hepatic fibrosis
ketotic GSD
Online Access:https://www.mdpi.com/2073-4425/12/8/1205

Internet

https://www.mdpi.com/2073-4425/12/8/1205

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