Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.
Bakker
H D
HD
Academic Medical Center, Divisions of Emma Kinderziekenhuis/Children's AMC and Clinical Chemistry, Amsterdam, The Netherlands.
Rubio Gozalbo
M E
ME
van Gennip
A H
AH
D002675:Child, Preschool; D003103:Coloboma / Q000209:etiology*; D042943:Dihydrouracil Dehydrogenase (NADP); D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000209:etiology*; D010088:Oxidoreductases / Q000172:deficiency*; D011596:Psychomotor Disorders / Q000209:etiology*
D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)