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Quoted phrase not found in phrase index: "Neurometabolic disorder due to serine deficiency"
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Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Klomp LW, et al. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055895 Free PMC article.
3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA seq …
3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by con …
Effect of l-serine and magnesium ions on the functional properties of human phosphoserine phosphatase and its pathogenetic variants.
Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B. Marchesani F, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Mar;1870(3):167034. doi: 10.1016/j.bbadis.2024.167034. Epub 2024 Jan 24. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38278334 Free article.
Defects in any of the three enzymes operating in the pathway result in a group of neurometabolic diseases collectively known as serine deficiency disorders (SDDs). ...The M52T substitution had similar, but milder effects, while the D32N variant behaved …
Defects in any of the three enzymes operating in the pathway result in a group of neurometabolic diseases collectively known as se …
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ. Coşkun T, et al. Turk J Pediatr. 2009 Nov-Dec;51(6):587-92. Turk J Pediatr. 2009. PMID: 20196394
Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. ...We report a 4 1/2-year-old boy who presented with congenital microc …
Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one …