Associated Papers
Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the GAA:c.1799G>A and c.55G>A Variants.
Faruq AA et al.
Genes, 2025
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Albokhari D et al.
Cold Spring Harbor Molecular Case Studies, 2023
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
Functional characterization of 21 allelic variants of dihydropyrimidinase.
Hishinuma E et al.
Biochemical Pharmacology, 2017
DNA mutations of the cat: the good, the bad and the ugly.
Lyons LA
Journal of Feline Medicine and Surgery, 2015
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.
Chang HS et al.
Jimd Reports, 2012
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
van Kuilenburg AB et al.
Nucleosides, Nucleotides & Nucleic Acids, 2008
Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.
van Kuilenburg AB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2003
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
Hamajima N et al.
American Journal of Human Genetics, 1998
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