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Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency.

AuthorsY S Shin, S Reiter, O Zelger, I Brünstler, A von Rücker
JournalAdvances in experimental medicine and biology (Adv Exp Med Biol) Vol. 195 Pt A Pg. 71-6 ( 1986) ISSN: 0065-2598 [Print] United States
PMID3728187 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glutarates
  • Homocystine
  • Orotic Acid
  • Formiminoglutamic Acid
  • Transferases
  • Hydroxymethyl and Formyl Transferases
  • Glutamate Formimidoyltransferase
  • Ammonia-Lyases
  • formiminotetrahydrofolate cyclodeaminase
Topics
  • Ammonia-Lyases (deficiency)
  • Child, Preschool
  • Female
  • Formiminoglutamic Acid (urine)
  • Glutamate Formimidoyltransferase
  • Glutarates (urine)
  • Homocystine (urine)
  • Humans
  • Hydroxymethyl and Formyl Transferases
  • Megaloblasts (cytology)
  • Orotic Acid (urine)
  • Polycythemia (complications)
  • Purine-Pyrimidine Metabolism, Inborn Errors (diagnosis, metabolism)
  • Transferases (deficiency)

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