Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen, O P; Oemardien, L F; van der Beek, N A M E; Kroos, M A; Wind, H K; Voznyi, Y V; Burke, D; Jackson, M; Winchester, B G; Reuser, A J J

van Diggelen, O P; Oemardien, L F; van der Beek, N A M E; Kroos, M A; Wind, H K; Voznyi, Y V; Burke, D; Jackson, M; Winchester, B G; Reuser, A J J.

Affiliation

van Diggelen OP; Department of Clinical Genetics, Erasmus University Medical Centre, Ee 2402, PO Box 2040, Rotterdam 3000 CA, The Netherlands. o.vandiggelen@erasmusmc.nl

J Inherit Metab Dis ; 32(3): 416-23, 2009 Jun.

Article in En | MEDLINE | ID: mdl-19387865

Subject(s)

Acarbose/metabolism; Glucan 1,4-alpha-Glucosidase/analysis; Glycogen Storage Disease Type II/diagnosis; Glycogen Storage Disease Type II/enzymology; Glycogen/metabolism; Leukocytes/enzymology; Acarbose/pharmacology; Diagnostic Techniques, Neurological; Glucan 1,4-alpha-Glucosidase/antagonists & inhibitors; Glucan 1,4-alpha-Glucosidase/metabolism; Glycogen/pharmacology; Glycogen Storage Disease Type II/blood; Glycogen Storage Disease Type II/pathology; Humans; Infant, Newborn; Leukocytes/pathology; Substrate Specificity

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Glucan 1,4-alpha-Glucosidase / Acarbose / Glycogen / Leukocytes Type of study: Evaluation_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2009 Type: Article Affiliation country: Netherlands

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