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Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ. Ofman R, et al. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S. Schackmann MJ, et al. Among authors: ofman r. Mol Genet Metab. 2016 Jun;118(2):123-7. doi: 10.1016/j.ymgme.2016.03.009. Epub 2016 Apr 3. Mol Genet Metab. 2016. PMID: 27067449
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS. Chatzispyrou IA, et al. Among authors: ofman r. Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152. Hum Mol Genet. 2017. PMID: 28449065 Free PMC article.
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJ, Kemp S. Ofman R, et al. EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061. EMBO Mol Med. 2010. PMID: 20166112 Free PMC article.
Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.
Pougovkina O, te Brinke H, Ofman R, van Cruchten AG, Kulik W, Wanders RJ, Houten SM, de Boer VC. Pougovkina O, et al. Hum Mol Genet. 2014 Jul 1;23(13):3513-22. doi: 10.1093/hmg/ddu059. Epub 2014 Feb 10. Hum Mol Genet. 2014. PMID: 24516071
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Loupatty FJ, et al. Am J Hum Genet. 2007 Jan;80(1):195-9. doi: 10.1086/510725. Epub 2006 Nov 30. Am J Hum Genet. 2007. PMID: 17160907 Free PMC article.
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.
Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, Ballhausen D, Yamaguchi S, Duran M, Wanders RJ. Loupatty FJ, et al. Mol Genet Metab. 2006 Mar;87(3):243-8. doi: 10.1016/j.ymgme.2005.09.019. Epub 2006 Feb 8. Mol Genet Metab. 2006. PMID: 16466957
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.
Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ. Kemp S, et al. Mol Genet Metab. 2005 Feb;84(2):144-51. doi: 10.1016/j.ymgme.2004.09.015. Mol Genet Metab. 2005. PMID: 15670720
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ. Ofman R, et al. Am J Hum Genet. 2003 May;72(5):1300-7. doi: 10.1086/375116. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696021 Free PMC article.
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