Literature DB >> 11783492

Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.

A B van Kuilenburg1, H van Lenthe, G G Ratmann, B Assmann, G F Hoffmann, C Brautigam, A H van Gennip.   

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Year:  2000        PMID： 11783492     DOI： 10.1007/0-306-46843-3_47

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  2 in total

1.  Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.

Authors:  C Schmidt; U Hofmann; D Kohlmüller; T Mürdter; U M Zanger; M Schwab; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

Authors:  Jun Hwa Lee; André B P van Kuilenburg; N G G M Abeling; Valeria Vasta; Si Houn Hahn
Journal:  JIMD Rep       Date:  2015-02-01
  2 in total

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