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Page 1
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA. de Rooy RLP, et al. Among authors: benoist jf. Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30. Eur J Paediatr Neurol. 2018. PMID: 29661537
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A. Le Ber I, et al. Among authors: benoist jf. Neurology. 2007 Jan 23;68(4):295-7. doi: 10.1212/01.wnl.0000252366.10731.43. Neurology. 2007. PMID: 17242337
Early-onset hyperargininaemia: a severe disorder?
Schiff M, Benoist JF, Cardoso ML, Elmaleh-Bergès M, Forey P, Santiago J, Ogier de Baulny H. Schiff M, et al. Among authors: benoist jf. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S175-8. doi: 10.1007/s10545-009-1137-5. Epub 2009 Apr 20. J Inherit Metab Dis. 2009. PMID: 19381865
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.
Ben Younes T, Kraoua I, Benrhouma H, Nasrallah F, Ben Achour N, Klaa H, Hassen-Rouissi A, Drissi C, Benoist JF, Ben Youssef-Turki I. Ben Younes T, et al. Among authors: benoist jf. Arch Pediatr. 2017 Mar;24(3):241-243. doi: 10.1016/j.arcped.2016.11.019. Epub 2017 Jan 25. Arch Pediatr. 2017. PMID: 28131559
[Should a metabolic work-up be performed in autism?].
Schiff M, Delorme R, Benoist JF, Ogier de Baulny H. Schiff M, et al. Among authors: benoist jf. Arch Pediatr. 2010 Jun;17(6):802-3. doi: 10.1016/S0929-693X(10)70119-6. Arch Pediatr. 2010. PMID: 20654901 French. No abstract available.
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.
Imbard A, de Calbiac H, Le Guillou E, Laforêt P, Schiff M, Brassier A, Thevenet E, Pontoizeau C, Lefrère B, Ottolenghi C, Lebigot E, Gaignard P, Gobin S, Acquaviva-Bourdain C, Benoist JF, Tuchmann-Durand C, Legendre A, de Lonlay P. Imbard A, et al. Among authors: benoist jf. J Inherit Metab Dis. 2024 Dec 9. doi: 10.1002/jimd.12819. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39648745
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Bouchereau J, et al. Among authors: benoist jf. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. Mol Genet Metab. 2024. PMID: 39305737
149 results