Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities

J Inherit Metab Dis. 1994;17(5):640-1. doi: 10.1007/BF00711611.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Coloboma / etiology*
  • Dihydrouracil Dehydrogenase (NADP)
  • Humans
  • Male
  • Microphthalmos / etiology*
  • Oxidoreductases / deficiency*
  • Psychomotor Disorders / etiology*

Substances

  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)