Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

Introduction: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α‐glucosidase (GAA). A few late‐onset patients have been reported with skin fibroblast GAA activity levels of

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Bibliographische Detailangaben
Veröffentlicht in:	Muscle & nerve 2011-05, Vol.43 (5), p.665-670
Hauptverfasser:	Bali, Deeksha S., Tolun, Adviye A., Goldstein, Jennifer L., Dai, Jian, Kishnani, Priya S.
Format:	Artikel
Sprache:	eng
Schlagworte:	acid α-glucosidase Adolescent Adult Age of Onset Aged alpha-Glucosidases - genetics alpha-Glucosidases - metabolism Biological and medical sciences Blotting, Western - methods Child cross-reactive immunological material Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Enzyme Activation - genetics enzyme assay GAA Glycogen Storage Disease Type II - enzymology Glycogen Storage Disease Type II - epidemiology Glycogen Storage Disease Type II - genetics Humans Medical sciences Middle Aged Mutation - genetics Neurology Pompe disease Protein Modification, Translational - genetics Young Adult
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Beschreibung
Zusammenfassung:	Introduction: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α‐glucosidase (GAA). A few late‐onset patients have been reported with skin fibroblast GAA activity levels of
ISSN:	0148-639X 1097-4598
DOI:	10.1002/mus.21933