Muscle biopsy in Pompe disease Biópsia muscular na doença de Pompe

Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases. Methods: A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases)...

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Bibliographic Details
Main Authors: Lineu Cesar Werneck, Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola
Format: Article
Language:English
Published: Thieme Revinter Publicações 2013-05-01
Series:Arquivos de Neuro-Psiquiatria
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Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000500284
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