Niezen-Koning K - Search Results

1

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

Van Hove JL, Grünewald S, Jaeken J, Demaerel P, Declercq PE, Bourdoux P, Niezen-Koning K, Deanfeld JE, Leonard JV. Van Hove JL, et al. Lancet. 2003 Apr 26;361(9367):1433-5. doi: 10.1016/S0140-6736(03)13105-4. Lancet. 2003. PMID: 12727399

2

[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].

Derks TG, Jakobs H, Gerding A, Niezen-Koning KE, Reijngoud DJ, Smit GP. Derks TG, et al. Ned Tijdschr Geneeskd. 2004 Oct 30;148(44):2185-90. Ned Tijdschr Geneeskd. 2004. PMID: 15559414 Dutch.

3

Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.

Niezen-Koning KE, Chapman TE, Mulder IE, Smit GP, Reijngoud DJ, Berger R. Niezen-Koning KE, et al. Clin Chim Acta. 1991 Jun 14;199(2):173-84. doi: 10.1016/0009-8981(91)90109-p. Clin Chim Acta. 1991. PMID: 1873916

4

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.

Touw CM, Smit GP, Niezen-Koning KE, Bosgraaf-de Boer C, Gerding A, Reijngoud DJ, Derks TG. Touw CM, et al. Orphanet J Rare Dis. 2013 Mar 20;8:43. doi: 10.1186/1750-1172-8-43. Orphanet J Rare Dis. 2013. PMID: 23509891 Free PMC article.

5

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, Niezen-Koning KE, Wanders RJ, Rondeel JM, Loeber JG, Ten Kate LP, Smit GP, Reijngoud DJ. Derks TG, et al. J Inherit Metab Dis. 2008 Feb;31(1):88-96. doi: 10.1007/s10545-007-0492-3. Epub 2008 Jan 14. J Inherit Metab Dis. 2008. PMID: 18188679

6

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA. van Maldegem BT, et al. JAMA. 2006 Aug 23;296(8):943-52. doi: 10.1001/jama.296.8.943. JAMA. 2006. PMID: 16926354

7

Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase.

Niezen-Koning KE, Wanders RJ, Nagel GT, Sewell AC, Heymans HS. Niezen-Koning KE, et al. Clin Chim Acta. 1994 Sep;229(1-2):99-106. doi: 10.1016/0009-8981(94)90232-1. Clin Chim Acta. 1994. PMID: 7988059

8

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG. Touw CM, et al. Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30. Orphanet J Rare Dis. 2012. PMID: 22630369 Free PMC article.

9

A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS.

Niezen-Koning KE, Wanders RJ, Nagel GT, IJlst L, Heymans HS. Niezen-Koning KE, et al. Biochim Biophys Acta. 1992 Oct 13;1180(1):28-32. doi: 10.1016/0925-4439(92)90023-g. Biochim Biophys Acta. 1992. PMID: 1390941

10

[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].

van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA. van Maldegem BT, et al. Ned Tijdschr Geneeskd. 2008 Jul 26;152(30):1678-85. Ned Tijdschr Geneeskd. 2008. PMID: 18714522 Dutch.

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