Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

Chien, Y-H; Lee, N-C; Hwu, W-L; Fang, J-Y

Chien, Y-H; Lee, N-C; Hwu, W-L; Fang, J-Y.

Afiliação

Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Lee NC; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Fang JY; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.

Eur J Neurol ; 25(10): e111, 2018 10.

Article em En | MEDLINE | ID: mdl-30192061

Assuntos

Terapia de Reposição de Enzimas; Doença de Depósito de Glicogênio Tipo II; Adulto; Consenso; Progressão da Doença; Humanos; Músculo Esquelético

Palavras-chave

Pompe disease; acid α-glucosidase; enzyme replacement therapy; magnetic resonance imaging; pre-symptomatic hyperCKaemia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Terapia de Reposição de Enzimas Tipo de estudo: Diagnostic_studies / Guideline Limite: Adult / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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