Selected publications: Ouesleti S, Coutinho MF, Ribeiro I, Miled A, Mosbahi DS, Alves S. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: Identification of three novel mutations and in silico structural analysis of the missense mutations. World J Pediatr. 2017 Aug; 13(4):374-380. doi: 10.1007/s12519-017-0005-x. Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L. Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. JIMD Rep. 2016; 26:53-60. doi: 10.1007/8904_2015_487. Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab. 2014 Jun; 112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG. Molecular basis of acid ceramidase deficiency in a neonatal form of Farberdisease: identification of the first large deletion in ASAH1 gene. Mol Genet Metab. 2013 Jul; 109(3):276-81. doi: 10.1016/j.ymgme.2013.04.019. Ribeiro I, Marcão A, Amaral O, Sá Miranda MC, Vanier MT, Millat G. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet. 2001 Jul; 109(1):24-32.
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