Associated Papers
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
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
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