Benoist JF - Search Results

1

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

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

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.

5

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

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

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

8

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

9

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

Boina Abdallah A, Ogier de Baulny H, Kozyraki R, Passemard S, Fenneteau O, Lebon S, Rigal O, Mesples B, Yacouben K, Giraudier S, Benoist JF, Schiff M. Boina Abdallah A, et al. Among authors: benoist jf. Mol Genet Metab. 2012 Sep;107(1-2):66-71. doi: 10.1016/j.ymgme.2012.07.007. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22854512

10

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson MA, Touati G, Arnoux JB, Barbier V, Bahi-Buisson N, Desguerre I, Charbit M, Benoist JF, Dupic L, Aigrain Y, Blanc T, Salomon R, Rabier D, Guest G, de Lonlay P, Niaudet P. Brassier A, et al. Among authors: benoist jf. Mol Genet Metab. 2013 Sep-Oct;110(1-2):106-10. doi: 10.1016/j.ymgme.2013.05.001. Epub 2013 May 14. Mol Genet Metab. 2013. PMID: 23751327

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