Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
van Gennip
A H
AH
Academic Medical Center, Department of Pediatrics, Amsterdam, The Netherlands.
de Abreu
R A
RA
van Lenthe
H
H
Bakkeren
J
J
Rotteveel
J
J
Vreken
P
P
van Kuilenburg
A B
AB
D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008099:Liver / Q000737:chemistry / Q000201:enzymology; D011743:Pyrimidines / Q000652:urine*
D011743:Pyrimidines; D000581:Amidohydrolases; C020047:dihydropyrimidinase