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Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. Among authors: benoist jf. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
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.
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
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.
Maternal and fetal tyrosinemia type I.
Garcia Segarra N, Roche S, Imbard A, Benoist JF, Grenèche MO, Davit-Spraul A, Ogier de Baulny H. Garcia Segarra N, et al. Among authors: benoist jf. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S507-10. doi: 10.1007/s10545-012-9569-8. Epub 2012 Dec 19. J Inherit Metab Dis. 2010. PMID: 23250512
Methylation metabolites in amniotic fluid depend on gestational age.
Imbard A, Blom HJ, Schlemmer D, Barto R, Czerkiewicz I, Rigal O, Muller F, Benoist JF. Imbard A, et al. Among authors: benoist jf. Prenat Diagn. 2013 Sep;33(9):848-55. doi: 10.1002/pd.4142. Epub 2013 May 31. Prenat Diagn. 2013. PMID: 23613283
145 results