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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela, Patrícia; Mastroianni Kirsztajn, Gianna; Motta, Fabiana L; Martin, Renan P; Turaça, Lauro T; Ferrer, Henrique L F; Gomes, Caio P; Nicolicht, Priscila; Mara Marins, Maryana; Pessoa, Juliana G; Braga, Marion C; D'Almeida, Vânia; Martins, Ana Maria; Pesquero, João B.
Affiliation
  • Varela P; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Mastroianni Kirsztajn G; Division of Nephrology - Department of Medicine, Federal University of São Paulo, São Paulo, SP, Brazil.
  • Motta FL; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Martin RP; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Turaça LT; McKeusick-Nathans Institute of Genetic Medicine - Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Ferrer HLF; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Gomes CP; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Nicolicht P; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Mara Marins M; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Pessoa JG; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • Braga MC; Center for Research and Molecular Diagnostic of Genetic Diseases - Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil.
  • D'Almeida V; Department of Psychobiology, Federal University of São Paulo, São Paulo, SP, Brazil.
  • Martins AM; Department of Psychobiology, Federal University of São Paulo, São Paulo, SP, Brazil.
  • Pesquero JB; Reference Center in Inborn Errors of Metabolism, Pediatrics Department, Federal University of São Paulo, São Paulo, SP, Brazil.
Orphanet J Rare Dis ; 15(1): 30, 2020 01 29.
Article in En | MEDLINE | ID: mdl-31996269
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fabry Disease / Alpha-Galactosidase / Dried Blood Spot Testing Type of study: Observational_studies Limits: Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2020 Document type: Article Affiliation country: Brasil
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fabry Disease / Alpha-Galactosidase / Dried Blood Spot Testing Type of study: Observational_studies Limits: Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2020 Document type: Article Affiliation country: Brasil