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Renal pathology in children with mitochondrial diseases.
Martín-Hernández E, García-Silva MT, Vara J, Campos Y, Cabello A, Muley R, Del Hoyo P, Martín MA, Arenas J. Martín-Hernández E, et al. Pediatr Nephrol. 2005 Sep;20(9):1299-305. doi: 10.1007/s00467-005-1948-z. Epub 2005 Jun 24. Pediatr Nephrol. 2005. PMID: 15977024
Mitochondrial diseases associated with cerebral folate deficiency.
Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT. Garcia-Cazorla A, et al. Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. Neurology. 2008. PMID: 18413591 No abstract available.
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563
78 results