Waterham HR - Search Results

1

Plasma lipidomics as a diagnostic tool for peroxisomal disorders.

Herzog K, Pras-Raves ML, Ferdinandusse S, Vervaart MAT, Luyf ACM, van Kampen AHC, Wanders RJA, Waterham HR, Vaz FM. Herzog K, et al. Among authors: waterham hr. J Inherit Metab Dis. 2018 May;41(3):489-498. doi: 10.1007/s10545-017-0114-7. Epub 2017 Dec 5. J Inherit Metab Dis. 2018. PMID: 29209936 Free PMC article.

2

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

3

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: waterham hr. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

4

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

5

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

6

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: waterham hr. Nat Genet. 2000 Feb;24(2):188-91. doi: 10.1038/72861. Nat Genet. 2000. PMID: 10655068

7

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

8

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Poll-The BT, Frenkel J, Houten SM, Kuis W, Duran M, de Koning TJ, Dorland L, de Barse MM, Romeijn GJ, Wanders RJ, Waterham HR. Poll-The BT, et al. Among authors: waterham hr. J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364. J Inherit Metab Dis. 2000. PMID: 10896295 No abstract available.

9

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, Waterham HR. Houten SM, et al. Among authors: waterham hr. J Inherit Metab Dis. 2000 Jun;23(4):367-70. doi: 10.1023/a:1005687415434. J Inherit Metab Dis. 2000. PMID: 10896296 No abstract available.

10

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.

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