Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme aci...

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Main Authors: Juan Clinton Llerena Junior, Osvaldo JM Nascimento, Acary Souza B Oliveira, Mario Emilio T Dourado Junior, Carlo D Marrone, Heloise Helena Siqueira, Cláudia F R Sobreira, Elza Dias-Tosta, Lineu Cesar Werneck
Format: Article
Language:English
Published: Thieme Revinter Publicações 2015-01-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
doença de Pompe, doença de depósito de glicogênio tipo II
alfa-glicosidade ácida
debilidade muscular
dispneia
gene GAA
GAA recombinante humana
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005011103&lng=en&tlng=en
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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005011103&lng=en&tlng=en

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