Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. [electronic resource]
Producer: 20011101Description: 191-5 p. digitalISSN:- 0174-304X
- Amino Acids -- adverse effects
- Carbohydrate Dehydrogenases -- deficiency
- Cerebrospinal Fluid -- drug effects
- Child
- Child, Preschool
- Dose-Response Relationship, Drug
- Female
- Glycine -- therapeutic use
- Head -- growth & development
- Humans
- Infant
- Infant, Newborn
- Metabolism, Inborn Errors -- diagnosis
- Phenotype
- Phosphoglycerate Dehydrogenase
- Serine -- administration & dosage
- Spasms, Infantile -- blood
- Treatment Outcome
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Publication Type: Case Reports; Journal Article
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