Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients from f...

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Main Authors: Klomp, Leo W. J., de Koning, Tom J., Malingré, Helga E. M., van Beurden, Ellen A. C. M., Brink, Miny, Opdam, Frans L., Duran, Marinus, Jaeken, Jaak, Pineda, Merce, van Maldergem, Lionel, Poll-The, Bwee Tien, van den Berg, Inge E. T., Berger, Ruud
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2000
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287916/
https://ncbi.nlm.nih.gov/pubmed/11055895
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