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p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
Pasqualim, G; Ribeiro, M G; da Fonseca, G G G; Szlago, M; Schenone, A; Lemes, A; Rojas, M V M; Matte, U; Giugliani, R.
Affiliation
  • Pasqualim G; Post-Graduate Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.
  • Ribeiro MG; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • da Fonseca GG; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Cidade Universitária, Rio de Janeiro, Brazil.
  • Szlago M; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Cidade Universitária, Rio de Janeiro, Brazil.
  • Schenone A; Fundación para el Estudio de las Enfermedades metabólicas (FESEN), Buenos Aires, Argentina.
  • Lemes A; Fundación para el Estudio de las Enfermedades metabólicas (FESEN), Buenos Aires, Argentina.
  • Rojas MV; Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay.
  • Matte U; Genzyme, Genzyme Latin America - A Sanofi Company, Rio de Janeiro, Brazil.
  • Giugliani R; Post-Graduate Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.
Clin Genet ; 88(4): 376-80, 2015 Oct.
Article in En | MEDLINE | ID: mdl-25256405
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I / Iduronidase / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Male Language: En Journal: Clin Genet Year: 2015 Type: Article Affiliation country: Brazil
Fulltext
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XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I / Iduronidase / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Male Language: En Journal: Clin Genet Year: 2015 Type: Article Affiliation country: Brazil