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New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT, Pessoa JG, Motta FL, Muñoz Rojas MV, Müller KB, Lourenço CM, Junior Marques W, D'Almeida V, Martins AM, Pesquero JB. Turaça LT, et al. J Hum Genet. 2012 Jun;57(6):347-51. doi: 10.1038/jhg.2012.32. Epub 2012 May 3. J Hum Genet. 2012. PMID: 22551898
Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences.
Martins AM, D'Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM, Benetti Filho CC, Martini Filho D, Biagini G, Pimentel H, Abensur H, Guimarães HC, Gomes JG, Sobral Neto J, D'Almeida LO, Carvalho LR, Harouche MB, Maldonado MC, Nascimento OJ, Montoril PS, Bastos RV. Martins AM, et al. J Pediatr. 2009 Oct;155(4 Suppl):S19-31. doi: 10.1016/j.jpeds.2009.07.003. J Pediatr. 2009. PMID: 19765408 Review. No abstract available.
ACE activity is modulated by the enzyme α-galactosidase A.
Batista EC, Carvalho LR, Casarini DE, Carmona AK, dos Santos EL, da Silva ED, dos Santos RA, Nakaie CR, Rojas MV, de Oliveira SM, Bader M, D'Almeida V, Martins AM, de Picoly Souza K, Pesquero JB. Batista EC, et al. J Mol Med (Berl). 2011 Jan;89(1):65-74. doi: 10.1007/s00109-010-0686-2. Epub 2010 Oct 13. J Mol Med (Berl). 2011. PMID: 20941593
232 results