Benoist JF - Search Results

1

Progression despite replacement of a myopathic form of coenzyme Q10 defect.

Auré K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lombès A. Auré K, et al. Among authors: benoist jf. Neurology. 2004 Aug 24;63(4):727-9. doi: 10.1212/01.wnl.0000134607.76780.b2. Neurology. 2004. PMID: 15326254

2

Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, Elion J. Benoist JF, et al. Mol Genet Metab. 2001 Feb;72(2):181-4. doi: 10.1006/mgme.2000.3122. Mol Genet Metab. 2001. PMID: 11161845

3

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J. Acquaviva C, et al. Among authors: benoist jf. Eur J Hum Genet. 2001 Aug;9(8):577-82. doi: 10.1038/sj.ejhg.5200675. Eur J Hum Genet. 2001. PMID: 11528502

4

Differences in coenzyme Q10 content in deltoid and quadriceps muscles.

Benoist JF, Rigal O, Nivoche Y, Martin C, Biou D, Lombès A. Benoist JF, et al. Clin Chim Acta. 2003 Mar;329(1-2):147-8. doi: 10.1016/s0009-8981(02)00423-0. Clin Chim Acta. 2003. PMID: 12589978 Clinical Trial. No abstract available.

5

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio in children: age-related reference intervals.

Benoist JF, Alberti C, Leclercq S, Rigal O, Jean-Louis R, Ogier de Baulny H, Porquet D, Biou D. Benoist JF, et al. Clin Chem. 2003 Mar;49(3):487-94. doi: 10.1373/49.3.487. Clin Chem. 2003. PMID: 12600962

6

Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.

Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot-Deseilligny C, Bolgert F. Roze E, et al. Among authors: benoist jf. Arch Neurol. 2003 Oct;60(10):1457-62. doi: 10.1001/archneur.60.10.1457. Arch Neurol. 2003. PMID: 14568819 Clinical Trial.

7

Methylmalonic and propionic acidaemias: management and outcome.

de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. de Baulny HO, et al. Among authors: benoist jf. J Inherit Metab Dis. 2005;28(3):415-23. doi: 10.1007/s10545-005-7056-1. J Inherit Metab Dis. 2005. PMID: 15868474 Review.

8

Isolated remethylation disorders: do our treatments benefit patients?

Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H. Schiff M, et al. Among authors: benoist jf. J Inherit Metab Dis. 2011 Feb;34(1):137-45. doi: 10.1007/s10545-010-9120-8. Epub 2010 May 21. J Inherit Metab Dis. 2011. PMID: 20490923 Review.

9

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

Fragaki K, Cano A, Benoist JF, Rigal O, Chaussenot A, Rouzier C, Bannwarth S, Caruba C, Chabrol B, Paquis-Flucklinger V. Fragaki K, et al. Among authors: benoist jf. Mitochondrion. 2011 May;11(3):533-6. doi: 10.1016/j.mito.2011.02.002. Epub 2011 Feb 15. Mitochondrion. 2011. PMID: 21329767

10

Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method.

Tebani A, Schlemmer D, Imbard A, Rigal O, Porquet D, Benoist JF. Tebani A, et al. Among authors: benoist jf. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Dec 1;879(31):3694-9. doi: 10.1016/j.jchromb.2011.10.009. Epub 2011 Oct 13. J Chromatogr B Analyt Technol Biomed Life Sci. 2011. PMID: 22035979

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