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

Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism. The youngest boy also had congenital bilateral cataract. Magnetic resonance imaging of...

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Bibliografski detalji
Glavni autori: Jaeken, J, Detheux, M, Van Maldergem, L, Foulon, M, Carchon, H, Van Schaftingen, E
Format: Artigo
Jezik:Inglês
Izdano: 1996
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511571/
https://ncbi.nlm.nih.gov/pubmed/8758134
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