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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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Detalhes bibliográficos
Main Authors: Jaeken, J, Detheux, M, Van Maldergem, L, Foulon, M, Carchon, H, Van Schaftingen, E
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511571/
https://ncbi.nlm.nih.gov/pubmed/8758134
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