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3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 1996; Vol. 19 (2), pp. 223-6. - Publication Year :
- 1996
- Subjects :
- Amino Acid Metabolism, Inborn Errors genetics
Brain Diseases enzymology
Child
Chromosomes, Human, Pair 7
Consanguinity
Humans
Infant
Male
Phosphoglycerate Dehydrogenase
Phosphoric Monoester Hydrolases genetics
Serine cerebrospinal fluid
Amino Acid Metabolism, Inborn Errors enzymology
Carbohydrate Dehydrogenases deficiency
Phosphoric Monoester Hydrolases deficiency
Serine biosynthesis
Subjects
Details
- Language :
- English
- ISSN :
- 0141-8955
- Volume :
- 19
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 8739971
- Full Text :
- https://doi.org/10.1007/BF01799435