Towards quality assurance in the determination of lysosomal enzymes: A two-centre study-Reference-Cited by-同舟云学术

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Towards quality assurance in the determination of lysosomal enzymes: A two-centre study

Published:2003-09 Issue:6 Volume:26 Page:571-581
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lukacs Z.¹²,Keil A.¹,Peters V.³,Kohlschütter A.¹,Hoffmann G. F.³,Cantz M.⁴,Kopitz J.⁴

Affiliation:

1. ; Department of Pediatrics, Metabolic Laboratory; University Hospital Hamburg; Hamburg

2. ; Department of Pediatrics, Metabolic Laboratory; University Hospital Hamburg; Martinistr. 52 Hamburg 20246 Germany

3. ; Department of Pediatrics; University Hospital Heidelberg; Heidelberg Germany

4. ; Department of Pathochemistry; University Hospital Heidelberg; Heidelberg Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1025904132569/fullpdf

Reference13 articles.

1. Synthesis of 4-methylumbelliferyl-3-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2gangliosidosis genotypes;Bayleran;Clin Chim Acta,1984

2. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper;Chamoles;Clin Chem,2001

3. Tay Sachs disease carrier screening: a 21-year experience;D'Souza;Genet Test,2000

4. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-β-D-glucopyranoside for the diagnosis of GM2gangliosidosis in leukocytes;Inui;Clin Genet,1984

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