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...

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Hlavní autoři: Joseph Schneider, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, Jeanine Jarnes Utz
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016-09-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Hypothyroidism
Late-onset Pompe disease
Acid α-glucosidase enzyme
Glycogen
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2214426916300416
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