Hypothyroidism in late-onset Pompe disease

Purpose: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progres...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Joseph Schneider, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, Jeanine Jarnes Utz
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2016-09-01
Series:Molecular Genetics and Metabolism Reports
Assuntos:
Hypothyroidism
Late-onset Pompe disease
Acid α-glucosidase enzyme
Glycogen
Acceso en liña:http://www.sciencedirect.com/science/article/pii/S2214426916300416
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares