Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Winchester, B; Bali, D; Bodamer, O A; Caillaud, C; Christensen, E; Cooper, A; Cupler, E; Deschauer, M; Fumic, K; Jackson, M; Kishnani, P; Lacerda, L; Ledvinová, J; Lugowska, A; Lukacs, Z; Maire, I; Mandel, H; Mengel, E; Müller-Felber, W; Piraud, M; Reuser, A; Rupar, T; Sinigerska, I; Szlago, M; Verheijen, F; van Diggelen, O P; Wuyts, B; Zakharova, E; Keutzer, J

Winchester, B; Bali, D; Bodamer, O A; Caillaud, C; Christensen, E; Cooper, A; Cupler, E; Deschauer, M; Fumic, K; Jackson, M; Kishnani, P; Lacerda, L; Ledvinová, J; Lugowska, A; Lukacs, Z; Maire, I; Mandel, H; Mengel, E; Müller-Felber, W; Piraud, M; Reuser, A; Rupar, T; Sinigerska, I; Szlago, M; Verheijen, F; van Diggelen, O P; Wuyts, B; Zakharova, E; Keutzer, J.

Mol Genet Metab ; 93(3): 275-81, 2008 Mar.

Article in En | MEDLINE | ID: mdl-18078773

Subject(s)

Glucan 1,4-alpha-Glucosidase/blood; Glycogen Storage Disease Type II/diagnosis; Clinical Laboratory Techniques; Humans; Infant

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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Glucan 1,4-alpha-Glucosidase Type of study: Diagnostic_studies / Guideline / Screening_studies Limits: Humans / Infant Language: En Journal: Mol Genet Metab Year: 2008 Document type: Article

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