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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Hong, Xinying; Daiker, Jessica; Sadilek, Martin; Ruiz-Schultz, Nicole; Kumar, Arun Babu; Norcross, Stevie; Dansithong, Warunee; Suhr, Teryn; Escolar, Maria L; Ronald Scott, C; Rohrwasser, Andreas; Gelb, Michael H.
Afiliação
  • Hong X; Department of Chemistry, University of Washington, Seattle, WA, USA.
  • Daiker J; Department of Chemistry, University of Washington, Seattle, WA, USA.
  • Sadilek M; Department of Chemistry, University of Washington, Seattle, WA, USA.
  • Ruiz-Schultz N; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Kumar AB; Department of Chemistry, University of Washington, Seattle, WA, USA.
  • Norcross S; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Dansithong W; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Suhr T; MLD Foundation, West Linn, OR, USA.
  • Escolar ML; The Program for the Study of Neurodevelopment in Rare Disorders, University of Pittsburgh, Pittsburgh, PA, USA.
  • Ronald Scott C; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Rohrwasser A; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Gelb MH; Department of Chemistry, University of Washington, Seattle, WA, USA. gelb@uw.edu.
Genet Med ; 23(3): 555-561, 2021 03.
Article em En | MEDLINE | ID: mdl-33214709

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucodistrofia Metacromática Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucodistrofia Metacromática Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos