Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation

Roberto Giugliani,Marcia Goncalves Ribeiro, A M Paula,Isabel Furquim,Eugenia Ribeiro Valadares,A R Martins, Karlla Jesuino,Adriana Brites, Camila Padilha,Camila Bittar,Luciana Giugliani,Ida Vanessa Doederlein Schwartz,Sandra Leistnersegal

Molecular Genetics and Metabolism（2013）

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Abstract

Roberto Giugliani, Marcia Ribeiro, Ana-Carolina Paula, Isabel Furquim, Eugenia Valadares, Ana-Maria Martins, Karlla Jesuino, Adriana Brites, Camila Padilha, Camila Bittar, Luciana Giugliani, Ida Schwartz, Sandra Leistner-Segal, HCPA, Porto Alegre, RS, Brazil, IPPGM, UFRJ, Rio de Janeiro, RJ, Brazil, Hospital Municipal da Crianca, Guarulhos, SP, Brazil, Department of Pediatrics, UFMG, Belo Horizonte, MG, Brazil, Department of Pediatrics, UNIFESP, Sao Paulo, SP, Brazil

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Key words

brazilian mps vi patients,mutation,phenotype

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