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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: benoist jf. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. 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.
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
Neural tube defects, folic acid and methylation.
Imbard A, Benoist JF, Blom HJ. Imbard A, et al. Among authors: benoist jf. Int J Environ Res Public Health. 2013 Sep 17;10(9):4352-89. doi: 10.3390/ijerph10094352. Int J Environ Res Public Health. 2013. PMID: 24048206 Free PMC article. Review.
High homocysteine induces betaine depletion.
Imbard A, Benoist JF, Esse R, Gupta S, Lebon S, de Vriese AS, de Baulny HO, Kruger W, Schiff M, Blom HJ. Imbard A, et al. Among authors: benoist jf. Biosci Rep. 2015 Apr 28;35(4):e00222. doi: 10.1042/BSR20150094. Biosci Rep. 2015. PMID: 26182429 Free PMC article.
Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M. Lambrecht A, et al. Among authors: benoist jf. Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937393 Free PMC article.
145 results