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Items: 1 to 20 of 111

1.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H.

J Inherit Metab Dis. 2014 Jan;37(1):137-9. doi: 10.1007/s10545-013-9628-9. Epub 2013 Jun 27. No abstract available.

PMID:
23807318
2.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.

Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H.

J Inherit Metab Dis. 2013 Sep;36(5):795-803. doi: 10.1007/s10545-012-9542-6. Epub 2012 Oct 3.

PMID:
23053472
3.

Diagnosis of mitochondrial fatty acid oxidation defects.

Duran M, Bruinvis L, Ketting D, Dorland L.

Padiatr Padol. 1993;28(1):19-25. Review.

PMID:
8446424
4.
5.

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.

6.

Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T.

Pediatr Res. 2004 Nov;56(5):744-50. Epub 2004 Sep 3.

PMID:
15347768
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.

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P.

Hum Mutat. 2001 Sep;18(3):169-89. Review.

PMID:
11524729
9.

Plasma free fatty acids in mitochondrial fatty acid oxidation defects.

Martínez G, Jiménez-Sánchez G, Divry P, Vianey-Saban C, Riudor E, Rodés M, Briones P, Ribes A.

Clin Chim Acta. 1997 Nov 28;267(2):143-54.

PMID:
9469249
10.

[Study of the inborn errors of mitochondrial fatty acid beta-oxidation deficiency].

Zhu JM, Yang Z.

Beijing Da Xue Xue Bao. 2006 Apr 18;38(2):214-7. Review. Chinese.

11.

Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies?

Bastin J.

Biochimie. 2014 Jan;96:113-20. doi: 10.1016/j.biochi.2013.05.012. Epub 2013 Jun 10. Review.

PMID:
23764392
12.

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

Potter BK, Little J, Chakraborty P, Kronick JB, Evans J, Frei J, Sutherland SC, Wilson K, Wilson BJ.

J Inherit Metab Dis. 2012 Jan;35(1):115-23. doi: 10.1007/s10545-011-9352-2. Epub 2011 Jun 1.

PMID:
21630065
13.

Long-chain acyl-CoA profiles in cultured fibroblasts from patients with defects in fatty acid oxidation.

Tamvakopoulos CS, Willi S, Anderson VE, Hale DE.

Biochem Mol Med. 1995 Jun;55(1):15-21.

PMID:
7551821
14.

Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.

Tonsgard JH, Stephens JK, Rhead WJ, Penn D, Horwitz AL, Kirschner BS, Whitington PF, Berger S, Tripp ME.

Pediatr Neurol. 1991 Mar-Apr;7(2):125-30.

PMID:
2059253
15.
16.
17.

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

Djouadi F, Bastin J.

J Inherit Metab Dis. 2008 Apr;31(2):217-25. doi: 10.1007/s10545-008-0844-7. Epub 2008 Apr 4. Review.

PMID:
18392740
18.

Prenatal diagnosis of mitochondrial fatty acid oxidation defects.

Nada MA, Vianey-Saban C, Roe CR, Ding JH, Mathieu M, Wappner RS, Bialer MG, McGlynn JA, Mandon G.

Prenat Diagn. 1996 Feb;16(2):117-24.

PMID:
8650121
19.

Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects.

Divry P, Vianey-Saban C, Mathieu M.

J Inherit Metab Dis. 1999 May;22(3):286-8. No abstract available.

PMID:
10384388
20.

Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AH, IJlst L.

J Inherit Metab Dis. 1999 Jun;22(4):442-87. Review.

PMID:
10407780

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