Waterham HR - Search Results

1

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Van Hove JL, et al. Among authors: waterham hr. Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/PDR.0b013e3181e5c3a4. Pediatr Res. 2010. PMID: 20453710 Free PMC article.

2

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ. Vaz FM, et al. Among authors: waterham hr. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. doi: 10.1007/s004399900105. Hum Genet. 1999. PMID: 10480371

3

Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.

Ferdinandusse S, Mulders J, IJlst L, Denis S, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: waterham hr. Biochem Biophys Res Commun. 1999 Sep 16;263(1):213-8. doi: 10.1006/bbrc.1999.1340. Biochem Biophys Res Commun. 1999. PMID: 10486279

4

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ. Jansen GA, et al. Among authors: waterham hr. Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195. Hum Mol Genet. 2000. PMID: 10767344

5

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.

Ferdinandusse S, Denis S, IJlst L, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: waterham hr. J Lipid Res. 2000 Nov;41(11):1890-6. J Lipid Res. 2000. PMID: 11060359 Free article.

6

Biochemical and genetic aspects of mevalonate kinase and its deficiency.

Houten SM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: waterham hr. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):19-32. doi: 10.1016/s1388-1981(00)00135-9. Biochim Biophys Acta. 2000. PMID: 11111075 Review.

7

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.

Waterham HR, Wanders RJ. Waterham HR, et al. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):340-56. doi: 10.1016/s1388-1981(00)00159-1. Biochim Biophys Acta. 2000. PMID: 11111101 Review.

8

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P. Ferdinandusse S, et al. Among authors: waterham hr. J Lipid Res. 2001 Jan;42(1):137-41. J Lipid Res. 2001. PMID: 11160375 Free article.

9

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Jira PE, et al. Among authors: waterham hr. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

10

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.

Di Rocco M, Caruso U, Waterham HR, Picco P, Loy A, Wanders RJ. Di Rocco M, et al. Among authors: waterham hr. J Inherit Metab Dis. 2001 Jun;24(3):411-2. doi: 10.1023/a:1010525206818. J Inherit Metab Dis. 2001. PMID: 11486909 No abstract available.

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