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Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke, Lorne A; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A; Keenan, Hillary A; Munoz-Rojas, Maria V; Okuyama, Torayuki; Viskochil, David; Whitley, Chester B; Wijburg, Frits A; Muenzer, Joseph.
Afiliação
  • Clarke LA; Department of Medical Genetics, B.C. Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
  • Giugliani R; Department of Genetics, Federal University of Rio Grande do Sul and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Guffon N; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Bron Cedex, France.
  • Jones SA; Manchester Centre for Genomic Medicine, Manchester University NHS Trust, Manchester, UK.
  • Keenan HA; Sanofi Genzyme, Cambridge, Massachusetts.
  • Munoz-Rojas MV; Sanofi Genzyme, Cambridge, Massachusetts.
  • Okuyama T; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Viskochil D; University of Utah, Salt Lake City, Utah.
  • Whitley CB; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • Wijburg FA; Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota.
  • Muenzer J; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Clin Genet ; 96(4): 281-289, 2019 10.
Article em En | MEDLINE | ID: mdl-31194252
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose I / Predisposição Genética para Doença / Estudos de Associação Genética / Iduronidase / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose I / Predisposição Genética para Doença / Estudos de Associação Genética / Iduronidase / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article