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Items: 1 to 20 of 218

1.

Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.

Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, Fukao T, Fukuda S, Yamaguchi S.

Anal Bioanal Chem. 2013 Feb;405(4):1345-51. doi: 10.1007/s00216-012-6532-3. Epub 2012 Nov 10.

PMID:
23143007
3.

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.

Violante S, Ijlst L, Te Brinke H, Koster J, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.

Biochim Biophys Acta. 2013 Sep;1831(9):1467-74. doi: 10.1016/j.bbalip.2013.06.007. Epub 2013 Jul 10.

PMID:
23850792
4.

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

Chalmers RA, Stanley CA, English N, Wigglesworth JS.

J Pediatr. 1997 Aug;131(2):220-5.

PMID:
9290607
5.

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.

Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM.

Mol Genet Metab. 2008 Apr;93(4):403-10. Epub 2008 Feb 20.

PMID:
18077198
6.

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P.

Brain Dev. 2015 Aug;37(7):698-703. doi: 10.1016/j.braindev.2014.10.005. Epub 2014 Nov 1.

PMID:
25459972
7.

Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.

Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S.

Brain Dev. 2010 May;32(5):362-70. doi: 10.1016/j.braindev.2009.06.001. Epub 2009 Jul 8.

PMID:
19589653
8.
9.

[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].

Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):405-9. Chinese.

PMID:
22931933
10.

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E.

Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8.

PMID:
12385891
11.

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.

Niezen-Koning KE, van Spronsen FJ, Ijlst L, Wanders RJ, Brivet M, Duran M, Reijngoud DJ, Heymans HS, Smit GP.

J Inherit Metab Dis. 1995;18(2):230-2. No abstract available.

PMID:
7564255
12.

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.

Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, Tavares de Almeida I, Duran M, Jakobs C, Wanders RJ.

Clin Chim Acta. 1999 Mar;281(1-2):1-17.

PMID:
10217622
13.

Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.

Pourfarzam M, Schaefer J, Turnbull DM, Bartlett K.

Clin Chem. 1994 Dec;40(12):2267-75.

14.

Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts.

Verhoeven NM, Roe DS, Kok RM, Wanders RJ, Jakobs C, Roe CR.

J Lipid Res. 1998 Jan;39(1):66-74.

15.

Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.

Li H, Fukuda S, Hasegawa Y, Purevsuren J, Kobayashi H, Mushimoto Y, Yamaguchi S.

J Chromatogr B Analyt Technol Biomed Life Sci. 2010 Jun 15;878(20):1669-72. doi: 10.1016/j.jchromb.2010.01.046. Epub 2010 Feb 11.

PMID:
20207594
16.

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

Yamaguchi S, Li H, Purevsuren J, Yamada K, Furui M, Takahashi T, Mushimoto Y, Kobayashi H, Hasegawa Y, Taketani T, Fukao T, Fukuda S.

Mol Genet Metab. 2012 Sep;107(1-2):87-91. doi: 10.1016/j.ymgme.2012.07.004. Epub 2012 Jul 14.

PMID:
22841441
17.
18.

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.

Röschinger W, Muntau AC, Duran M, Dorland L, IJlst L, Wanders RJ, Roscher AA.

Clin Chim Acta. 2000 Aug;298(1-2):55-68.

PMID:
10876004
19.
20.

Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders.

Schmidt-Sommerfeld E, Bobrowski PJ, Penn D, Rhead WJ, Wanders RJ, Bennett MJ.

Pediatr Res. 1998 Aug;44(2):210-4.

PMID:
9702916

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