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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji H, Imbard A, Spraul A, Taibi L, Barbier V, Habes D, Brassier A, Arnoux JB, Bouchereau J, Pichard S, Sissaoui S, Lacaille F, Girard M, Debray D, de Lonlay P, Schiff M. Hajji H, et al. Among authors: schiff m. Mol Genet Metab Rep. 2022 Nov 8;33:100933. doi: 10.1016/j.ymgmr.2022.100933. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393896 Free PMC article.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Schiff M, et al. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167277
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: schiff m. Biosci Rep. 2015 Apr 28;35(4):e00222. doi: 10.1042/BSR20150094. Biosci Rep. 2015. PMID: 26182429 Free PMC article.
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Rak M, et al. Among authors: schiff m. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. Clin Sci (Lond). 2016. PMID: 26846578 Free PMC article. Review.
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: schiff m. 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.
685 results