Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity-Reference-Cited by-同舟云学术

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

Published:2011-04-11 Issue:5 Volume:43 Page:665-670
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Bali Deeksha S.,Tolun Adviye A.,Goldstein Jennifer L.,Dai Jian,Kishnani Priya S.

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.21933/fullpdf

Reference49 articles.

1. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase;Amalfitano;Proc Natl Acad Sci USA,1999

2. Pompe disease diagnosis and management guideline;Kishnani;Genet Med,2006

3. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting;Winchester;Mol Genet Metab,2008

4. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation;Laforet;Neurology,2000

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2. Phenotypic implications of pathogenic variant types in Pompe disease;Journal of Human Genetics;2021-05-11

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