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
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Abdelfattah F et al.
Human Mutation, 2020
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Poli A et al.
American Journal of Medical Genetics. Part A, 2017
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
Mattos EP et al.
American Journal of Medical Genetics. Part A, 2015
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R et al.
American Journal of Human Genetics, 2014
The role of the conserved Lys68*:Glu265 intersubunit salt bridge in aspartate aminotransferase kinetics: multiple forced covariant amino acid substitutions in natural variants.
Deu E et al.
Protein Science : a Publication of the Protein Society, 2002
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