Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

ABSTRACT Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main...

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Bibliographic Details
Main Authors: Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola
Format: Article
Language:English
Published: Thieme Revinter Publicações
Series:Arquivos de Neuro-Psiquiatria
Subjects:
glycogen storage disease type II
muscular weakness
muscle diseases
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000400247&lng=en&tlng=en
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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000400247&lng=en&tlng=en

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