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Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad, Marena; Hong, Xinying; Froelich, Steven; Daiker, Jessica; Sacco, James; Nguyen, Hong Phuc; Campagna, Madelynn; Suhr, Dean; Suhr, Teryn; LeBowitz, Jonathan H; Gelb, Michael H; Clark, Wyatt T.
Afiliación
  • Trinidad M; Translational Genomics Group, BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Froelich S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Daiker J; Translational Genomics Group, BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Sacco J; Department of Chemistry, University of Washington, Seattle, WA, USA.
  • Nguyen HP; Translational Genomics Group, BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Campagna M; Translational Genomics Group, BioMarin Pharmaceutical Inc., Novato, CA, USA.
  • Suhr D; Department of Chemistry, University of Washington, Seattle, WA, USA.
  • Suhr T; Department of Biochemistry, University of Washington, Seattle, WA, USA.
  • LeBowitz JH; MLD Foundation, West Linn, OR, USA.
  • Gelb MH; MLD Foundation, West Linn, OR, USA.
  • Clark WT; Translational Genomics Group, BioMarin Pharmaceutical Inc., Novato, CA, USA.
Genome Biol ; 24(1): 172, 2023 07 21.
Article en En | MEDLINE | ID: mdl-37480112
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Leucodistrofia Metacromática Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Leucodistrofia Metacromática Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos