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Pilot study of newborn screening for six lysosomal diseases in Brazil.
Kubaski, Francyne; Sousa, Ines; Amorim, Tatiana; Pereira, Danilo; Silva, Camilo; Chaves, Vitor; Brusius-Facchin, Ana Carolina; Netto, Alice B O; Soares, Juliano; Vairo, Filippo; Poletto, Edina; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Hong, Xinying; Herbst, Zackary M; Burlina, Alberto; Gelb, Michael H; Giugliani, Roberto.
Afiliação
  • Kubaski F; Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, USA; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil. Electronic address: fkubaski@ggc.org.
  • Sousa I; APAE Salvador, Salvador, Brazil. Electronic address: ines.sousa@apaesalvador.org.br.
  • Amorim T; APAE Salvador, Salvador, Brazil; Colegiado de Medicina, Universidade do Estado da Bahia, Salvador, Brazil. Electronic address: tatiana.amorim@apaesalvador.org.br.
  • Pereira D; Innovatox, Sao Paulo, Brazil. Electronic address: danilopereira@innovatox.com.br.
  • Silva C; Waters technologies do Brazil, Sao Paulo, Brazil. Electronic address: Camilo_Silva@waters.com.
  • Chaves V; Waters technologies do Brazil, Sao Paulo, Brazil. Electronic address: vitor_chaves@waters.com.
  • Brusius-Facchin AC; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil. Electronic address: afacchin@hcpa.edu.br.
  • Netto ABO; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil. Electronic address: alicenetto@hcpa.edu.br.
  • Soares J; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil.
  • Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Rochester, USA. Electronic address: vairo.filippo@mayo.edu.
  • Poletto E; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil.
  • Trometer J; Perkin Elmer, Waltham, USA. Electronic address: joe.trometer@perkinelmer.com.
  • Souza A; Perkin Elmer, Sao Paulo, Brazil. Electronic address: alexandre.souza@perkinelmer.com.
  • Ranieri E; Women's and Children Hospital, Adelaide, Australia. Electronic address: Enzo.Ranieri@sa.gov.au.
  • Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy.
  • Hong X; Department of Chemistry, University of Washington, Seattle, USA; Department of Pathology and Laboratory of Medicine, Children's Hospital of Philadelphia, Philadelphia, USA. Electronic address: hongx@chop.edu.
  • Herbst ZM; Department of Chemistry, University of Washington, Seattle, USA. Electronic address: zherbst@uw.edu.
  • Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Padova, Italy. Electronic address: alberto.burlina@unipd.it.
  • Gelb MH; Department of Chemistry, University of Washington, Seattle, USA. Electronic address: gelb@uw.edu.
  • Giugliani R; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil; DASA, Sao Paulo, Brazil; Casa dos Raros, Porto Alegre, Brazil. Electronic address: rgiugliani@hcpa.edu.br.
Mol Genet Metab ; 140(1-2): 107654, 2023.
Article em En | MEDLINE | ID: mdl-37507255
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doença de Fabry Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doença de Fabry Idioma: En Ano de publicação: 2023 Tipo de documento: Article