Page last updated: 2024-10-16

beta-alanine and Dihydropyrimidine Dehydrogenase Deficiency

beta-alanine has been researched along with Dihydropyrimidine Dehydrogenase Deficiency in 2 studies

Dihydropyrimidine Dehydrogenase Deficiency: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Van Kuilenburg, AB1
Stroomer, AE1
Van Lenthe, H1
Abeling, NG1
Van Gennip, AH1
Schmidt, C1
Hofmann, U1
Kohlmüller, D1
Mürdter, T1
Zanger, UM1
Schwab, M1
Hoffmann, GF1

Other Studies

2 other studies available for beta-alanine and Dihydropyrimidine Dehydrogenase Deficiency

ArticleYear
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
    The Biochemical journal, 2004, Apr-01, Volume: 379, Issue:Pt 1

    Topics: Aminoisobutyric Acids; beta-Alanine; Brain Diseases, Metabolic, Inborn; Dihydropyrimidine Dehydrogen

2004
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Adolescent; beta-Alanine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dihydropyri

2005