Kemp S - Search Results

1

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: kemp s. Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32626714 Free PMC article.

2

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. Kemp S, et al. Hum Mutat. 2001 Dec;18(6):499-515. doi: 10.1002/humu.1227. Hum Mutat. 2001. PMID: 11748843 Review.

3

The peroxisomal ABC transporter family.

Wanders RJ, Visser WF, van Roermund CW, Kemp S, Waterham HR. Wanders RJ, et al. Among authors: kemp s. Pflugers Arch. 2007 Feb;453(5):719-34. doi: 10.1007/s00424-006-0142-x. Epub 2006 Oct 13. Pflugers Arch. 2007. PMID: 17039367 Review.

4

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.

Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S. Engelen M, et al. Among authors: kemp s. Biochim Biophys Acta. 2008 Mar;1781(3):105-11. doi: 10.1016/j.bbalip.2007.12.003. Epub 2007 Dec 28. Biochim Biophys Acta. 2008. PMID: 18206987

5

[From gene to disease; X-linked adrenoleukodystrophy].

Engelen M, Kemp S, van Geel BM. Engelen M, et al. Among authors: kemp s. Ned Tijdschr Geneeskd. 2008 Apr 5;152(14):804-8. Ned Tijdschr Geneeskd. 2008. PMID: 18491823 Review. Dutch.

6

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. Among authors: kemp s. EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061. EMBO Mol Med. 2010. PMID: 20166112 Free PMC article.

7

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S. Engelen M, et al. Among authors: kemp s. J Inherit Metab Dis. 2012 Nov;35(6):1137-45. doi: 10.1007/s10545-012-9471-4. Epub 2012 Mar 24. J Inherit Metab Dis. 2012. PMID: 22447153 Free PMC article.

8

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: kemp s. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968

9

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT. Engelen M, et al. Among authors: kemp s. Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. Orphanet J Rare Dis. 2012. PMID: 22889154 Free PMC article.

10

Bezafibrate for X-linked adrenoleukodystrophy.

Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S. Engelen M, et al. Among authors: kemp s. PLoS One. 2012;7(7):e41013. doi: 10.1371/journal.pone.0041013. Epub 2012 Jul 20. PLoS One. 2012. PMID: 22911730 Free PMC article. Clinical Trial.

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