Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-010-9249-5
Reference9 articles.
1. de Koning TJ, Duran M, Dorland L et al. (1998) Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol 44:261–265
2. de Koning TJ, Jaeken J, Pineda M et al. (2000) Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 31:287–292
3. de Koning TJ, Duran M, Van ML et al. (2002) Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis 25:119–125
4. de Koning TJ (2006) Treatment with amino acids in serine deficiency disorders. J Inherit Metab Dis 29:347–351
5. Hausler MG, Jaeken J, Monch E et al. (2001) Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. Neuropediatrics 32:191–195
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