Benoist JF - Search Results

1

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.

2

Inborn error of amino acid synthesis: human glutamine synthetase deficiency.

Häberle J, Görg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Häussinger D. Häberle J, et al. Among authors: benoist jf. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):352-8. doi: 10.1007/s10545-006-0256-5. J Inherit Metab Dis. 2006. PMID: 16763901 Review.

3

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J. Djouadi F, et al. Among authors: benoist jf. J Inherit Metab Dis. 2016 Jan;39(1):47-58. doi: 10.1007/s10545-015-9871-3. Epub 2015 Jun 25. J Inherit Metab Dis. 2016. PMID: 26109258 Free article.

4

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J. Acquaviva C, et al. Among authors: benoist jf. Hum Mutat. 2005 Feb;25(2):167-76. doi: 10.1002/humu.20128. Hum Mutat. 2005. PMID: 15643616

5

Management of West syndrome in a patient with methylmalonic aciduria.

Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, Desguerre I. Campeau PM, et al. Among authors: benoist jf. J Child Neurol. 2010 Jan;25(1):94-7. doi: 10.1177/0883073809336119. Epub 2009 Aug 21. J Child Neurol. 2010. PMID: 19700743

6

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.

de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P. de Keyzer Y, et al. Among authors: benoist jf. Pediatr Res. 2009 Jul;66(1):91-5. doi: 10.1203/PDR.0b013e3181a7c270. Pediatr Res. 2009. PMID: 19342984

7

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A. Abily-Donval L, et al. Among authors: benoist jf. Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294. Int J Mol Sci. 2017. PMID: 29104221 Free PMC article.

8

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P. Nizon M, et al. Among authors: benoist jf. Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148. Orphanet J Rare Dis. 2013. PMID: 24059531 Free PMC article.

9

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: benoist jf. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778

10

Long-term liver disease in methylmalonic and propionic acidemias.

Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF. Imbard A, et al. Among authors: benoist jf. Mol Genet Metab. 2018 Apr;123(4):433-440. doi: 10.1016/j.ymgme.2018.01.009. Epub 2018 Feb 7. Mol Genet Metab. 2018. PMID: 29433791

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