A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. Objective and methods: To des...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2021-12-01
coleção:	Molecular Genetics and Metabolism Reports
Assuntos:	Glycogen storage disease type III (GSD III) Hypoglycemia Cirrhosis Left ventricular hypertrophy (LVH) Cardiomyopathy and myopathy
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426921001166
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!