3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Jaeken, J; Detheux, M; Van Maldergem, L; Foulon, M; Carchon, H; Van Schaftingen, E

Jaeken, J; Detheux, M; Van Maldergem, L; Foulon, M; Carchon, H; Van Schaftingen, E.

Affiliation

Jaeken J; Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.

Arch Dis Child ; 74(6): 542-5, 1996 Jun.

Article in En | MEDLINE | ID: mdl-8758134

Subject(s)

Amino Acid Metabolism, Inborn Errors/metabolism; Carbohydrate Dehydrogenases/deficiency; Serine/biosynthesis; Amino Acid Metabolism, Inborn Errors/cerebrospinal fluid; Amino Acid Metabolism, Inborn Errors/drug therapy; Amino Acid Metabolism, Inborn Errors/enzymology; Carbohydrate Dehydrogenases/cerebrospinal fluid; Fibroblasts/enzymology; Glycine/cerebrospinal fluid; Humans; Infant; Male; Microcephaly/metabolism; Phosphoglycerate Dehydrogenase; Psychomotor Disorders/metabolism; Serine/therapeutic use

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Serine / Carbohydrate Dehydrogenases / Amino Acid Metabolism, Inborn Errors Limits: Humans / Infant / Male Language: En Journal: Arch Dis Child Year: 1996 Document type: Article Affiliation country: Belgium

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