Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency

Monogr Hum Genet. 1978:9:140-6. doi: 10.1159/000401626.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Apnea / genetics
  • Brain / enzymology
  • Consanguinity
  • Female
  • Genes, Recessive
  • Genetic Carrier Screening
  • Homocystinuria / genetics*
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics*
  • Intellectual Disability / genetics
  • Kidney / enzymology
  • Leukocytes / enzymology
  • Liver / enzymology
  • Methylenetetrahydrofolate Dehydrogenase (NADP) / deficiency*
  • Oxidoreductases / deficiency*
  • Seizures / genetics
  • Syndrome

Substances

  • Oxidoreductases
  • Methylenetetrahydrofolate Dehydrogenase (NADP)