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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| 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
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000500284 |
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