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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
Blood oxidative stress markers in Gaucher disease patients.
Roversi FM, Galdieri LC, Grego BH, Souza FG, Micheletti C, Martins AM, D'Almeida V. Roversi FM, et al. Clin Chim Acta. 2006 Feb;364(1-2):316-20. doi: 10.1016/j.cca.2005.07.022. Epub 2005 Aug 24. Clin Chim Acta. 2006. PMID: 16125160
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318
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.
222 results