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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong, Xinying; Daiker, Jessica; Sadilek, Martin; DeBarber, Andrea E; Chiang, John; Duan, Jie; Bootsma, Albert H; Huidekoper, Hidde H; Vaz, Frédéric M; Gelb, Michael H.
Afiliación
  • 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.
  • DeBarber AE; Department of Chemical Physiology and Biochemistry, Oregon Health and Science University, Portland, OR, USA.
  • Chiang J; Molecular Vision Laboratory, Hillsboro, OR, USA.
  • Duan J; Molecular Vision Laboratory, Hillsboro, OR, USA.
  • Bootsma AH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, location AMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • Huidekoper HH; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Department of Pediatrics, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, location AMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
  • Gelb MH; Department of Chemistry, University of Washington, Seattle, WA, USA. gelb@uw.edu.
Genet Med ; 22(10): 1606-1612, 2020 10.
Article en En | MEDLINE | ID: mdl-32523054
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Xantomatosis Cerebrotendinosa Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Xantomatosis Cerebrotendinosa Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos