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Glycomics in rare diseases: from diagnosis tomechanism.
Davids, Mariska; Kane, Megan S; Wolfe, Lynne A; Toro, Camilo; Tifft, Cynthia J; Adams, David; Li, Xueli; Raihan, Mohd A; He, Miao; Gahl, William A; Boerkoel, Cornelius F; Malicdan, May Christine V.
Afiliação
  • Davids M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland. Electronic address: mariska.davids@nih.gov.
  • Kane MS; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia.
  • Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.
  • Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.
  • Tifft CJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.
  • Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.
  • Li X; Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; The Michael J Palmieri Metabolic Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Raihan MA; Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; The Michael J Palmieri Metabolic Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • He M; Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; The Michael J Palmieri Metabolic Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.
  • Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address: malicdanm@mail.nih.gov.
Transl Res ; 206: 5-17, 2019 04.
Article em En | MEDLINE | ID: mdl-30423312
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Glicômica Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Glicômica Idioma: En Ano de publicação: 2019 Tipo de documento: Article