Article
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Kishnani Priya S, Goldstein Jennifer, Austin Stephanie L, Arn Pamela, Bachrach Bert, Bali Deeksha S, Chung Wendy K, El-Gharbawy Areeg, Brown Laurie M, Kahler Stephen, Pendyal Surekha, Ross Katalin M, Tsilianidis Laurie, Weinstein David A, Watson Michael S
Abstract excerpt
PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), β (PHKB), ɣ (PHKG1,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.