PHGDH

Publications

Poli A et al. Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. Am J Med Genet A. 2017;173(7):1936-1942. PMID:28440900.

El-Hattab AW et al. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis. 2016;39(3):373-381. PMID: 26960553.

Mattos EP et al. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability. Am J Med Genet A. 2015;167(6):1323-1329.  PMID: 25913727.

Acuna-Hidalgo R et al. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014;95(3):285-293. PMID: 25152457.

Shaheen R et al. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014;94(6):898-904.  PMID: 24836451.