Associated Papers
Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.
Fu J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
L-serine synthesis via the phosphorylated pathway in humans.
Murtas G et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
Cavole TR et al.
American Journal of Medical Genetics. Part A, 2020
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