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Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela, Patrícia; Mastroianni Kirsztajn, Gianna; Ferrer, Henrique; Aranda, Carolina; Wallbach, Krissia; Ferreira da Mata, Gustavo; Moura, Luiz A; Moreira, Sílvia R; Mendes, Carmen; Curiati, Marco A; Martins, Ana Maria; Bosco Pesquero, João.
Afiliação
  • Varela P; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, Brazil.
  • Mastroianni Kirsztajn G; Division of Nephrology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil.
  • Ferrer H; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, Brazil.
  • Aranda C; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil.
  • Wallbach K; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil.
  • Ferreira da Mata G; Division of Nephrology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil.
  • Moura LA; Division of Nephrology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil.
  • Moreira SR; Division of Nephrology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil.
  • Mendes C; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil.
  • Curiati MA; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil.
  • Martins AM; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil.
  • Bosco Pesquero J; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, Brazil, jbpesquero@gmail.com.
Nephron ; 144(3): 147-155, 2020.
Article em En | MEDLINE | ID: mdl-31665721
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / 1-Desoxinojirimicina / Alfa-Galactosidase / Mutação de Sentido Incorreto Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Nephron Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / 1-Desoxinojirimicina / Alfa-Galactosidase / Mutação de Sentido Incorreto Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Nephron Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça