Clinical and biochemical findings in six patients with pyrimidine degradation defects.
van Gennip
A H
AH
Academic Medical Center (AMC) Amsterdam, Division of Pediatrics, The Netherlands.
Abeling
N G
NG
Stroomer
A E
AE
van Lenthe
H
H
Bakker
H D
HD
D000581:Amidohydrolases / Q000172:deficiency*; D000596:Amino Acids / Q000652:urine; D002851:Chromatography, High Pressure Liquid; D002855:Chromatography, Thin Layer; D042943:Dihydrouracil Dehydrogenase (NADP); D004827:Epilepsy / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D010088:Oxidoreductases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology / Q000378:metabolism*; D011743:Pyrimidines / Q000652:urine
D000596:Amino Acids; D011743:Pyrimidines; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D000581:Amidohydrolases; C020047:dihydropyrimidinase