Associated Papers
Understanding and Managing Infantile PHGDH Deficiency: A Case Report.
Nilay M et al.
Neurology India, 2026
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Glinton KE et al.
Molecular Genetics and Metabolism, 2018
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Poli A et al.
American Journal of Medical Genetics. Part A, 2017
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
Benke PJ et al.
Journal of Child Neurology, 2017
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Tabatabaie L et al.
Journal of Inherited Metabolic Disease, 2011
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Tabatabaie L et al.
Molecular Genetics and Metabolism, 2010
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L et al.
Human Mutation, 2009