Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.
Henderson
M J
MJ
Department of Chemical Pathology, St. James's Hospital, Leeds, UK.
Ward
K
K
Simmonds
H A
HA
Duley
J A
JA
Davies
P M
PM
D000581:Amidohydrolases / Q000172:deficiency*; D002851:Chromatography, High Pressure Liquid; D002658:Developmental Disabilities / Q000150:complications / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000652:urine; D011743:Pyrimidines / Q000652:urine; D012640:Seizures / Q000150:complications / Q000652:urine; D013056:Spectrophotometry, Ultraviolet
D011743:Pyrimidines; D000581:Amidohydrolases; C020047:dihydropyrimidinase