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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Autori principali: Jaeken, J, Detheux, M, Van Maldergem, L, Foulon, M, Carchon, H, Van Schaftingen, E
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1996
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511571/
https://ncbi.nlm.nih.gov/pubmed/8758134
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