Detection of β-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level-Reference-Cited by-同舟云学术

Detection of β-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level

Published:2001-11 Issue:7 Volume:24 Page:725-732
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Van Kuilenburg A. B. P.¹²³,Van Lenthe H.¹²³,Assmann B.⁴,Göhlich-Ratmann G.⁵,Hoffmann G. F.⁴,Bräutigam C.⁴,Wevers R. A.⁶,Van Gennip A. H.¹²³

Affiliation:

1. ; Academic Medical Center; University of Amsterdam; The Netherlands

2. ; Emma Children's Hospital; The Netherlands

3. Department of Clinical Chemistry; The Netherlands

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

5. ; Department of Pediatrics; University Hospital Essen; Essen Germany

6. ; University Hospital Nijmegen; The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1012997406132/fullpdf

Reference11 articles.

1. Presumptive unreidopropionase deficiency as a new defect in pyrimidine catabolism found with in vitro H-NMR spectroscopy;Assmann;J Inherit Metab Dis,1998

2. Enzymes of uracil catabolism in normal and neoplastic human tissues;Naguib;Cancer Res,1985

3. Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation;Van Gennip;Clin Chem,1993

4. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects;Van Gennip;J Inherit Metab Dis,1997

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