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Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?
Bastin J, Bonnefont JP, Djouadi F, Bresson JL. Bastin J, et al. J Inherit Metab Dis. 2015 Mar;38(2):371-2. doi: 10.1007/s10545-014-9775-7. Epub 2014 Oct 14. J Inherit Metab Dis. 2015. PMID: 25310995 No abstract available.
A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
Thompson GN, Bresson JL, Bonnefont JP, Walter JH, Read MA, Saudubray JM, Leonard JV, Halliday D. Thompson GN, et al. J Inherit Metab Dis. 1990;13(3):349-51. doi: 10.1007/BF01799392. J Inherit Metab Dis. 1990. PMID: 2122099 No abstract available.
Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.
Djouadi F, Bonnefont JP, Munnich A, Bastin J. Djouadi F, et al. Mol Genet Metab. 2003 Feb;78(2):112-8. doi: 10.1016/s1096-7192(03)00017-9. Mol Genet Metab. 2003. PMID: 12618083
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP. Thuillier L, et al. Hum Mutat. 2003 May;21(5):493-501. doi: 10.1002/humu.10201. Hum Mutat. 2003. PMID: 12673791
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.
Djouadi F, Bonnefont JP, Thuillier L, Droin V, Khadom N, Munnich A, Bastin J. Djouadi F, et al. Pediatr Res. 2003 Oct;54(4):446-51. doi: 10.1203/01.PDR.0000083001.91588.BB. Epub 2003 Jul 2. Pediatr Res. 2003. PMID: 12840153
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Bonnefont JP, et al. Mol Aspects Med. 2004 Oct-Dec;25(5-6):495-520. doi: 10.1016/j.mam.2004.06.004. Mol Aspects Med. 2004. PMID: 15363638 Review.
Bezafibrate for an inborn mitochondrial beta-oxidation defect.
Bonnefont JP, Bastin J, Behin A, Djouadi F. Bonnefont JP, et al. N Engl J Med. 2009 Feb 19;360(8):838-40. doi: 10.1056/NEJMc0806334. N Engl J Med. 2009. PMID: 19228633 No abstract available.
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS. Valayannopoulos V, et al. Mitochondrion. 2010 Jun;10(4):335-41. doi: 10.1016/j.mito.2010.02.006. Epub 2010 Mar 1. Mitochondrion. 2010. PMID: 20197121
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy.
Mouawia H, Saker A, Jais JP, Benachi A, Bussières L, Lacour B, Bonnefont JP, Frydman R, Simpson JL, Paterlini-Brechot P. Mouawia H, et al. Reprod Biomed Online. 2012 Nov;25(5):508-20. doi: 10.1016/j.rbmo.2012.08.002. Epub 2012 Aug 31. Reprod Biomed Online. 2012. PMID: 23000084
Autism spectrum disorders in propionic acidemia patients.
de la Bâtie CD, Barbier V, Roda C, Brassier A, Arnoux JB, Valayannopoulos V, Guemann AS, Pontoizeau C, Gobin S, Habarou F, Lacaille F, Bonnefont JP, Canouï P, Ottolenghi C, De Lonlay P, Ouss L. de la Bâtie CD, et al. J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30. J Inherit Metab Dis. 2018. PMID: 28856627
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