Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
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L. Dorland | T. Koning | M. Rubio-Gozalbo | L. Klomp | L. Spaapen | T. D. de Koning | A. Haagen | L. Tabatabaie | M. Rubio‐Gozalbo
[1] L. Klomp,et al. Novel mutations in 3‐phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics , 2009, Human mutation.
[2] T. Koning. Treatment with amino acids in serine deficiency disorders , 2006, Journal of Inherited Metabolic Disease.
[3] M. Durán,et al. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids , 2002, Journal of Inherited Metabolic Disease.
[4] K. Swoboda,et al. V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme* , 2002, The Journal of Biological Chemistry.
[5] V. Ramaekers,et al. Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. , 2001, Neuropediatrics.
[6] M. Knaap,et al. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. , 2000, Neuropediatrics.
[7] E. Schaftingen,et al. 3‐phosphoglycerate dehydrogenase deficiency in a patient with West syndrome , 2000, Developmental medicine and child neurology.
[8] M. Durán,et al. Beneficial effects of L‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency , 1998, Annals of neurology.
[9] E. Schaftingen,et al. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. , 1996, Archives of disease in childhood.