Waterham HR - Search Results

1

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S. Barendsen RW, et al. Among authors: waterham hr. Front Cell Dev Biol. 2021 Jan 28;9:631655. doi: 10.3389/fcell.2021.631655. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33585488 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

Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity.

van Kuilenburg AB, Haasjes J, Van Lenthe H, Zoetekouw L, Waterham HR, Vreken P, van Gennip AH. van Kuilenburg AB, et al. Among authors: waterham hr. Adv Exp Med Biol. 2000;486:251-5. doi: 10.1007/0-306-46843-3_49. Adv Exp Med Biol. 2000. PMID: 11783494 No abstract available.

4

Identification of human PMP34 as a peroxisomal ATP transporter.

Visser WF, van Roermund CW, Waterham HR, Wanders RJ. Visser WF, et al. Among authors: waterham hr. Biochem Biophys Res Commun. 2002 Dec 6;299(3):494-7. doi: 10.1016/s0006-291x(02)02663-3. Biochem Biophys Res Commun. 2002. PMID: 12445829

5

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.

Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: waterham hr. Eur J Hum Genet. 2003 Feb;11(2):196-200. doi: 10.1038/sj.ejhg.5200933. Eur J Hum Genet. 2003. PMID: 12634869

6

High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease.

Oey NA, den Boer ME, Ruiter JP, Wanders RJ, Duran M, Waterham HR, Boer K, van der Post JA, Wijburg FA. Oey NA, et al. Among authors: waterham hr. J Inherit Metab Dis. 2003;26(4):385-92. doi: 10.1023/a:1025163204165. J Inherit Metab Dis. 2003. PMID: 12971426

7

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

Wanders RJ, van Roermund CW, Visser WF, Ferdinandusse S, Jansen GA, van den Brink DM, Gloerich J, Waterham HR. Wanders RJ, et al. Among authors: waterham hr. Adv Exp Med Biol. 2003;544:293-302. doi: 10.1007/978-1-4419-9072-3_37. Adv Exp Med Biol. 2003. PMID: 14713243 Review. No abstract available.

8

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR. van Woerden CS, et al. Among authors: waterham hr. Kidney Int. 2004 Aug;66(2):746-52. doi: 10.1111/j.1523-1755.2004.00796.x. Kidney Int. 2004. PMID: 15253729 Free article.

9

Demonstration and characterization of phosphate transport in mammalian peroxisomes.

Visser WF, Van Roermund CW, Ijlst L, Hellingwerf KJ, Wanders RJ, Waterham HR. Visser WF, et al. Among authors: waterham hr. Biochem J. 2005 Aug 1;389(Pt 3):717-22. doi: 10.1042/BJ20041846. Biochem J. 2005. PMID: 15727560 Free PMC article.

10

Identification of novel mutations in classical galactosemia.

Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR. Bosch AM, et al. Among authors: waterham hr. Hum Mutat. 2005 May;25(5):502. doi: 10.1002/humu.9330. Hum Mutat. 2005. PMID: 15841485

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