Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid. [electronic resource]
Producer: 19680802Description: 3-16 p. digitalISSN:- 0040-8727
- Anemia, Macrocytic -- complications
- Blood Cell Count
- Bone Marrow Examination
- Cerebral Ventriculography
- Erythrocytes -- enzymology
- FIGLU Test
- Folic Acid -- administration & dosage
- Humans
- Infant
- Infusions, Parenteral
- Injections, Intramuscular
- Liver -- enzymology
- Male
- Metabolism, Inborn Errors -- complications
- Pyridoxal Phosphate -- administration & dosage
- Tetrahydrofolate Dehydrogenase -- metabolism
- Transferases -- metabolism
- Tryptophan
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Publication Type: Journal Article
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