Klomp LW - Search Results

1

L-serine synthesis in the central nervous system: a review on serine deficiency disorders.

Tabatabaie L, Klomp LW, Berger R, de Koning TJ. Tabatabaie L, et al. Among authors: klomp lw. Mol Genet Metab. 2010 Mar;99(3):256-62. doi: 10.1016/j.ymgme.2009.10.012. Epub 2009 Oct 25. Mol Genet Metab. 2010. PMID: 19963421 Review.

2

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: klomp lw. 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.

3

D-amino acids in the central nervous system in health and disease.

Fuchs SA, Berger R, Klomp LW, de Koning TJ. Fuchs SA, et al. Among authors: klomp lw. Mol Genet Metab. 2005 Jul;85(3):168-80. doi: 10.1016/j.ymgme.2005.03.003. Mol Genet Metab. 2005. PMID: 15979028 Review.

4

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: klomp lw. Ann Neurol. 2006 Oct;60(4):476-80. doi: 10.1002/ana.20977. Ann Neurol. 2006. PMID: 17068790

5

Serine-deficiency syndromes.

de Koning TJ, Klomp LW. de Koning TJ, et al. Among authors: klomp lw. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.

6

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.

7

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids.

Visser WF, Verhoeven-Duif NM, Ophoff R, Bakker S, Klomp LW, Berger R, de Koning TJ. Visser WF, et al. Among authors: klomp lw. J Chromatogr A. 2011 Oct 7;1218(40):7130-6. doi: 10.1016/j.chroma.2011.07.087. Epub 2011 Aug 3. J Chromatogr A. 2011. PMID: 21890145

8

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.

de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R. de Koning TJ, et al. Among authors: klomp lw. Lancet. 2004 Dec 18-31;364(9452):2221-2. doi: 10.1016/S0140-6736(04)17596-X. Lancet. 2004. PMID: 15610810

9

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW. Tabatabaie L, et al. Among authors: klomp lw. Hum Mutat. 2009 May;30(5):749-56. doi: 10.1002/humu.20934. Hum Mutat. 2009. PMID: 19235232

10

Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid: potential confounders and age-dependent ranges.

Fuchs SA, de Sain-van der Velden MG, de Barse MM, Roeleveld MW, Hendriks M, Dorland L, Klomp LW, Berger R, de Koning TJ. Fuchs SA, et al. Among authors: klomp lw. Clin Chem. 2008 Sep;54(9):1443-50. doi: 10.1373/clinchem.2007.100412. Epub 2008 Jul 7. Clin Chem. 2008. PMID: 18606633

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