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Novel GAA mutations in patients with Pompe disease.
Turaça, Lauro Thiago; de Faria, Douglas Oliveira Soares; Kyosen, Sandra Obikawa; Teixeira, Valber Dias; Motta, Fabiana Louise; Pessoa, Juliana Gilbert; Rodrigues E Silva, Marina; de Almeida, Sandro Soares; D'Almeida, Vânia; Munoz Rojas, Maria Verônica; Martins, Ana Maria; Pesquero, João Bosco.
Affiliation
  • Turaça LT; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • de Faria DO; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Kyosen SO; Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Teixeira VD; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Motta FL; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Pessoa JG; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Rodrigues E Silva M; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • de Almeida SS; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • D'Almeida V; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Munoz Rojas MV; Personalized Genetic Health, Genzyme do Brasil-A Sanofi Company, São Paulo, SP, Brazil.
  • Martins AM; Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Pesquero JB; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: jbpesquero@unifesp.br.
Gene ; 561(1): 124-31, 2015 Apr 25.
Article in En | MEDLINE | ID: mdl-25681614
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Full text: 1 Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Alpha-Glucosidases / Glycogen Type of study: Diagnostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: America do sul / Brasil Language: En Year: 2015 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Alpha-Glucosidases / Glycogen Type of study: Diagnostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: America do sul / Brasil Language: En Year: 2015 Type: Article