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Page 1
Therapies in inborn errors of oxidative metabolism.
Schiff M, Bénit P, Jacobs HT, Vockley J, Rustin P. Schiff M, et al. Trends Endocrinol Metab. 2012 Sep;23(9):488-95. doi: 10.1016/j.tem.2012.04.006. Epub 2012 May 25. Trends Endocrinol Metab. 2012. PMID: 22633959 Free PMC article. Review.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P. Gaignard P, et al. Among authors: schiff m. Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910460 Free PMC article.
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.
Prabhu D, Goldstein AC, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M. Prabhu D, et al. Among authors: schiff m. Mol Genet Metab Rep. 2015 Jun 1;3:43-46. doi: 10.1016/j.ymgmr.2015.03.005. Mol Genet Metab Rep. 2015. PMID: 26000237 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.
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C. Schiff M, et al. N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610. N Engl J Med. 2016. PMID: 26933868 Free PMC article. No abstract available.
685 results