Phosphoglycerate Dehydrogenase Deficiency (PHGDHD)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1782-1
Reference10 articles.
1. Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen K, Sunbul R, El-Hattab AW (2017) Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges. J Child Neurol 32:543–549. https://doi.org/10.1177/0883073817690094
2. de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R (2004) Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet 364:2221–2222. https://doi.org/10.1016/s0140-6736(04)17596-x
3. El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS (2016) On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis 39:373–381. https://doi.org/10.1007/s10545-016-9921-5
4. Fu J, Chen L, Su T, Xu S, Liu Y (2022) Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: case report and literature review. Int J Dev Neurosci 83:44. https://doi.org/10.1002/jdn.10236
5. Häusler MG, Jaeken J, Mönch E, Ramaekers VT (2001) Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. Neuropediatrics 32:191–195. https://doi.org/10.1055/s-2001-17373
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