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Titel:

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
van Kuilenburg, AB; Meinsma, R; Beke, E; Assmann, B; Ribes, A; Lorente, I; Busch, R; Mayatepek, E; Abeling, NG; van Cruchten, A; Stroomer, AE; van Lenthe, H; Zoetekouw, L; Kulik, W; Hoffmann, GF; Voit, T; Wevers, RA; Rutsch, F; van Gennip, AH
Abstract:
beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. In this study, we report the elucidation of the genetic basis underlying a beta-ureidopropionase deficiency in four patients presenting with neurological abnormalities and strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. No beta-ur...     »
Zeitschriftentitel:
Hum Mol Genet
Jahr:
2004
Band / Volume:
13
Heft / Issue:
22
Seitenangaben Beitrag:
2793-801
Sprache:
eng
Volltext / DOI:
doi:10.1093/hmg/ddh303
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15385443
Print-ISSN:
0964-6906
TUM Einrichtung:
Institut für Medizinische Statistik und Epidemiologie
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