Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening-Reference-Cited by-同舟云学术

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening

Published:2009-12-23 Issue:1 Volume:33 Page:43-50
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lukacs Zoltan,Nieves Cobos Paulina,Mengel Eugen,Hartung Ralf,Beck Michael,Deschauer Marcus,Keil Angelika,Santer René

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-009-9003-z

Reference17 articles.

1. Baethmann M, Straub V, Reuser AJJ (eds) (2008) Pompe disease. UNI-MED, Bremen

2. Bembi B, Cerini E, Danesino C et al (2008) Management and treatment of glycogenosis type II. Neurology 71(Suppl 2):S12–S36

3. Chamoles N, Niizawa G, Blanco M, Gaggioli D, Casentini C (2004) Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 347:97–102

4. Chien YH, Chiang SC, Zhang XK, et al (2008) Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122:39–45

5. Dajnoki A, Mühl A, Fekete G et al (2008) Newborn screening for Pompe disease by measuring acid α-glucosidase activity using tandem mass spectrometry. Clin Chem 54:1624–1629

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