Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.

Umapathysivam, K; Whittle, A M; Ranieri, E; Bindloss, C; Ravenscroft, E M; van Diggelen, O P; Hopwood, J J; Meikle, P J

Umapathysivam, K; Whittle, A M; Ranieri, E; Bindloss, C; Ravenscroft, E M; van Diggelen, O P; Hopwood, J J; Meikle, P J.

Affiliation

Umapathysivam K; Lysosomal Diseases Research Unit and State Screening Services, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Rd., North Adelaide, South Australia 5006, Australia.

Clin Chem ; 46(9): 1318-25, 2000 Sep.

Article in En | MEDLINE | ID: mdl-10973860

Subject(s)

Glucan 1,4-alpha-Glucosidase/blood; Glycogen Storage Disease Type II/diagnosis; Lysosomal Storage Diseases/diagnosis; Biomarkers/blood; Blood Specimen Collection; Clinical Enzyme Tests; Glycogen Storage Disease Type II/enzymology; Humans; Immunoassay; Infant, Newborn; Lysosomal Storage Diseases/enzymology; Sensitivity and Specificity; alpha-Glucosidases

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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Glucan 1,4-alpha-Glucosidase / Lysosomal Storage Diseases Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Language: En Journal: Clin Chem Journal subject: QUIMICA CLINICA Year: 2000 Type: Article Affiliation country: Australia

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