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Serine-deficiency syndromes.
de Koning TJ, Klomp LW. de Koning TJ, et al. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.
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. Among authors: de koning tj. 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.
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ. Tabatabaie L, et al. Among authors: de koning tj. J Inherit Metab Dis. 2011 Feb;34(1):181-4. doi: 10.1007/s10545-010-9249-5. Epub 2010 Nov 27. J Inherit Metab Dis. 2011. PMID: 21113737 Free PMC article.
D-serine in the developing human central nervous system.
Fuchs SA, Dorland L, de Sain-van der Velden MG, Hendriks M, Klomp LW, Berger R, de Koning TJ. Fuchs SA, et al. Among authors: de koning tj, de sain van der velden mg. Ann Neurol. 2006 Oct;60(4):476-80. doi: 10.1002/ana.20977. Ann Neurol. 2006. PMID: 17068790
Hyperketonaemia in glycerol kinase deficiency.
Sjarif DR, Dorland L, Sperl W, de Koning TJ, Beemer FA, Poll-The BT, Duran M. Sjarif DR, et al. Among authors: de koning tj. J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483. J Inherit Metab Dis. 2000. PMID: 11117440 No abstract available.
174 results