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Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst, Zackary M; Hong, Xinying; Urdaneta, Leslie; Klein, Terri; Waggoner, Christine; Liao, Hsuan-Chieh; Kubaski, Francyne; Giugliani, Roberto; Fuller, Maria; Gelb, Michael H.
Afiliação
  • Herbst ZM; Department of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: zherbst@uw.edu.
  • Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: hongx@chop.edu.
  • Urdaneta L; National MPS Society, P.O. Box 14686, Durham, NC 27709-4686, USA. Electronic address: leslie@mpssociety.org.
  • Klein T; National MPS Society, P.O. Box 14686, Durham, NC 27709-4686, USA. Electronic address: terri@mpssociety.org.
  • Waggoner C; Cure GM1 Foundation, P.O. Box 6890, Albany, CA 94706, USA. Electronic address: christine@curegm1.org.
  • Liao HC; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA. Electronic address: liaohc6@uw.edu.
  • Kubaski F; Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, SC 29646, USA. Electronic address: fkubaski@ggc.org.
  • Giugliani R; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: rgiugliani@hcpa.edu.br.
  • Fuller M; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide Medical School and School of Biological Sciences University of Adelaide, North Adelaide 5006, Australia. Electronic address: maria.fuller@adelaide.edu.au.
  • Gelb MH; Department of Chemistry, University of Washington, Seattle, WA 98195, USA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu.
Mol Genet Metab ; 140(1-2): 107632, 2023.
Article em En | MEDLINE | ID: mdl-37407323
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gangliosidose GM1 / Mucopolissacaridoses Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gangliosidose GM1 / Mucopolissacaridoses Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article