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Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.
Fu J, Chen L, Su T, Xu S, Liu Y. Fu J, et al. Int J Dev Neurosci. 2023 Feb;83(1):44-52. doi: 10.1002/jdn.10236. Epub 2022 Nov 9. Int J Dev Neurosci. 2023. PMID: 36308023 Review.
Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disease of serine biosynthesis. ...Here, we reported the first Chinese familial cases with genetically confirmed PHGDH deficiency and reviewed several previous repo …
Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disease of serine biosynthesis. ...Her …
Treatment with amino acids in serine deficiency disorders.
de Koning TJ. de Koning TJ. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):347-51. doi: 10.1007/s10545-006-0269-0. J Inherit Metab Dis. 2006. PMID: 16763900 Review.
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to seve …
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3- …
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J. de Koning TJ, et al. Neuropediatrics. 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. Neuropediatrics. 1999. PMID: 10222452 Review.
So far, three serine deficiency disorders have been reported; 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and a still unexplained serine deficiency disorder. ...
So far, three serine deficiency disorders have been reported; 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoser …
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Jaeken J. Jaeken J. J Child Neurol. 2002 Dec;17 Suppl 3:3S84-7; discussion 3S88. J Child Neurol. 2002. PMID: 12597057 Review.
Pyridoxine-dependent convulsions and the GABA(A) receptor defects are pure epileptic disorders that respond well to treatment. The convulsions associated with 3-phosphoglycerate dehydrogenase deficiency can be completely abolished with amino acid therapy. ...
Pyridoxine-dependent convulsions and the GABA(A) receptor defects are pure epileptic disorders that respond well to treatment. The convulsio …