Niezen-Koning KE - Search Results

1

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Almomani R, Herkert JC, Posafalvi A, Post JG, Boven LG, van der Zwaag PA, Willems PHGM, van Veen-Hof IH, Verhagen JMA, Wessels MW, Nikkels PGJ, Wintjes LT, van den Berg MP, Sinke RJ, Rodenburg RJ, Niezen-Koning KE, van Tintelen JP, Jongbloed JDH. Almomani R, et al. Among authors: niezen koning ke. J Med Genet. 2020 Jan;57(1):23-30. doi: 10.1136/jmedgenet-2019-106330. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494578

2

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Betsalel OT, Pop A, Rosenberg EH, Fernandez-Ojeda M; Creatine Transporter Research, Group; Jakobs C, Salomons GS. Betsalel OT, et al. Mol Genet Metab. 2012 Apr;105(4):596-601. doi: 10.1016/j.ymgme.2011.12.022. Epub 2012 Jan 6. Mol Genet Metab. 2012. PMID: 22281021

3

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M. Wiltink RC, et al. Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22. Eur J Hum Genet. 2016. PMID: 27329734 Free PMC article.

4

The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?

Mposhi A, Liang L, Mennega KP, Yildiz D, Kampert C, Hof IH, Jellema PG, de Koning TJ, Faber KN, Ruiters MHJ, Niezen-Koning KE, Rots MG. Mposhi A, et al. Among authors: niezen koning ke. Int J Mol Sci. 2022 Feb 16;23(4):2197. doi: 10.3390/ijms23042197. Int J Mol Sci. 2022. PMID: 35216315 Free PMC article.

5

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.

6

3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.

Visser G, Suormala T, Smit GP, Reijngoud DJ, Bink-Boelkens MT, Niezen-Koning KE, Baumgartner ER. Visser G, et al. Eur J Pediatr. 2000 Dec;159(12):901-4. doi: 10.1007/pl00008366. Eur J Pediatr. 2000. PMID: 11131348

7

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.

van Dael CM, Pierik LJ, Reijngoud DJ, Niezen-Koning KE, van Diggelen OP, van Spronsen FJ. van Dael CM, et al. Mol Genet Metab. 2007 Feb;90(2):221-3. doi: 10.1016/j.ymgme.2006.10.011. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17129743

8

Muscular glycogen storage diseases without increased glycogen content on histopathological examination.

Hoeksma M, den Dunnen WF, Niezen-Koning KE, van Diggelen OP, van Spronsen FJ. Hoeksma M, et al. Mol Genet Metab. 2007 Aug;91(4):370-3. doi: 10.1016/j.ymgme.2007.04.012. Epub 2007 May 30. Mol Genet Metab. 2007. PMID: 17540597

9

Pompe disease: current state of treatment modalities and animal models.

Geel TM, McLaughlin PM, de Leij LF, Ruiters MH, Niezen-Koning KE. Geel TM, et al. Mol Genet Metab. 2007 Dec;92(4):299-307. doi: 10.1016/j.ymgme.2007.07.009. Epub 2007 Sep 7. Mol Genet Metab. 2007. PMID: 17826266 Review.

10

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Hollak CE, et al. Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30. Mol Genet Metab. 2012. PMID: 22818240

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