Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. [electronic resource]
Producer: 20170714Description: 543-549 p. digitalISSN:- 1708-8283
- Abnormalities, Multiple -- diagnostic imaging
- Adolescent
- Brain Diseases -- diagnostic imaging
- Carbohydrate Metabolism, Inborn Errors -- complications
- Child, Preschool
- Family Health
- Female
- Fetal Growth Retardation -- diagnostic imaging
- Humans
- Ichthyosis -- diagnostic imaging
- Infant
- Limb Deformities, Congenital -- diagnostic imaging
- Male
- Microcephaly -- complications
- Mutation -- genetics
- Phenotype
- Phosphoglycerate Dehydrogenase -- deficiency
- Psychomotor Disorders -- complications
- Seizures -- complications
- Serine -- biosynthesis
- Young Adult
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Publication Type: Case Reports; Journal Article
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