de Koning TJ - Search Results

1

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ. Coşkun T, et al. Among authors: de koning tj. Turk J Pediatr. 2009 Nov-Dec;51(6):587-92. Turk J Pediatr. 2009. PMID: 20196394

2

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. Among authors: de koning tj. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425

3

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.

4

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.

van Maldegem BT, Duran M, Wanders RJ, Waterham HR, de Koning TJ, Rubio E, Wijburg FA. van Maldegem BT, et al. Among authors: de koning tj. J Pediatr. 2010 Jan;156(1):121-7. doi: 10.1016/j.jpeds.2009.07.008. J Pediatr. 2010. PMID: 19800078

5

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.

De Koning TJ, Duran M, Van Maldergem L, Pineda M, Dorland L, Gooskens R, Jaeken J, Poll-The BT. De Koning TJ, et al. J Inherit Metab Dis. 2002 May;25(2):119-25. doi: 10.1023/a:1015624726822. J Inherit Metab Dis. 2002. PMID: 12118526

6

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Duran M, Dorland L, Gooskens R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT. de Koning TJ, et al. Ann Neurol. 1998 Aug;44(2):261-5. doi: 10.1002/ana.410440219. Ann Neurol. 1998. PMID: 9708551

7

Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Duran M, Dorland L, Jakobs C, Wevers RA, Berger R, Poll-The BT. de Koning TJ, et al. Eur J Pediatr. 2000 Dec;159(12):939-40. doi: 10.1007/pl00008379. Eur J Pediatr. 2000. PMID: 11131361 No abstract available.

8

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. de Koning TJ, et al. Neuropediatrics. 2000 Dec;31(6):287-92. doi: 10.1055/s-2000-12944. Neuropediatrics. 2000. PMID: 11508546

9

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. Lancet. 2004 Dec 18-31;364(9452):2221-2. doi: 10.1016/S0140-6736(04)17596-X. Lancet. 2004. PMID: 15610810

10

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.

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