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Newborn screening of mucopolysaccharidoses: past, present, and future.
Arunkumar, Nivethitha; Langan, Thomas J; Stapleton, Molly; Kubaski, Francyne; Mason, Robert W; Singh, Rajendra; Kobayashi, Hironori; Yamaguchi, Seiji; Suzuki, Yasuyuki; Orii, Kenji; Orii, Tadao; Fukao, Toshiyuki; Tomatsu, Shunji.
Afiliação
  • Arunkumar N; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Langan TJ; Department of Health Sciences, University of Delaware, Newark, DE, USA.
  • Stapleton M; Departments of Neurology Pediatrics, and Physiology and Biophysics, State University of New York at Buffalo, Buffalo, NY, USA.
  • Kubaski F; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Mason RW; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
  • Singh R; Medical Genetics Service, HCPA, Porto Alegre, Brazil.
  • Kobayashi H; Department of Genetics and Molecular Biology-PPGBM, UFRGS, Porto Alegre, Brazil.
  • Yamaguchi S; INAGEMP, Porto Alegre, Brazil.
  • Suzuki Y; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Orii K; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
  • Orii T; Baebies, 615 Davis Drive, Durham, NC, USA.
  • Fukao T; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Tomatsu S; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
J Hum Genet ; 65(7): 557-567, 2020 Jul.
Article em En | MEDLINE | ID: mdl-32277174

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças por Armazenamento dos Lisossomos / Mucopolissacaridose I / Mucopolissacaridoses Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças por Armazenamento dos Lisossomos / Mucopolissacaridose I / Mucopolissacaridoses Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos