Waterham HR - Search Results

1

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Schaaf CP, et al. Among authors: waterham hr. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671375 Free PMC article. Review.

2

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. Waterham HR, et al. Am J Hum Genet. 2001 Oct;69(4):685-94. doi: 10.1086/323473. Epub 2001 Aug 22. Am J Hum Genet. 2001. PMID: 11519011 Free PMC article.

3

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Waterham HR, et al. Am J Hum Genet. 2003 Apr;72(4):1013-7. doi: 10.1086/373938. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618959 Free PMC article.

4

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH, Schneiders MS, Koster J, Waterham HR. Mandey SH, et al. Among authors: waterham hr. Hum Mutat. 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. Hum Mutat. 2006. PMID: 16835861

5

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.

Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR. Ferdinandusse S, et al. Among authors: waterham hr. Hum Mutat. 2007 Sep;28(9):904-12. doi: 10.1002/humu.20535. Hum Mutat. 2007. PMID: 17458872

6

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: waterham hr. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968

7

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E. Hartill VL, et al. Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459067

8

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J. Peters H, et al. Brain. 2014 Nov;137(Pt 11):2903-8. doi: 10.1093/brain/awu216. Epub 2014 Aug 14. Brain. 2014. PMID: 25125611

9

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR. Ferdinandusse S, et al. Among authors: waterham hr. J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31. J Med Genet. 2017. PMID: 27799409

10

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies.

Koster J, Waterham HR. Koster J, et al. Among authors: waterham hr. Methods Mol Biol. 2017;1595:63-67. doi: 10.1007/978-1-4939-6937-1_7. Methods Mol Biol. 2017. PMID: 28409452

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