Benoist JF - Search Results

1

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, Campeau PM, Rabier D, Valayannopoulos V, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: benoist jf. Mol Genet Metab. 2009 Jul;97(3):172-8. doi: 10.1016/j.ymgme.2009.03.006. Epub 2009 Mar 24. Mol Genet Metab. 2009. PMID: 19375370

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

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

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.

6

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

Cosson MA, Touati G, Lacaille F, Valayannnopoulos V, Guyot C, Guest G, Verkarre V, Chrétien D, Rabier D, Munnich A, Benoist JF, de Keyzer Y, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: benoist jf. Mol Genet Metab. 2008 Sep-Oct;95(1-2):107-9. doi: 10.1016/j.ymgme.2008.06.007. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676166

7

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Gitiaux C, et al. Among authors: benoist jf. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830228 Free PMC article.

8

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

Valayannopoulos V, Hubert L, Benoist JF, Romano S, Arnoux JB, Chrétien D, Kaplan J, Fakhouri F, Rabier D, Rötig A, Lebre AS, Munnich A, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: benoist jf. J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19277894

9

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

10

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

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