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N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park, Julien H; Mealer, Robert G; Elias, Abdallah F; Hoffmann, Susanne; Grüneberg, Marianne; Biskup, Saskia; Fobker, Manfred; Haven, Jaclyn; Mangels, Ute; Reunert, Janine; Rust, Stephan; Schoof, Jonathan; Schwanke, Corbin; Smoller, Jordan W; Cummings, Richard D; Marquardt, Thorsten.
Afiliação
  • Park JH; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.
  • Mealer RG; Department of General Pediatrics, University of Münster, Münster, Germany.
  • Elias AF; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hoffmann S; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, Massachusetts, USA.
  • Grüneberg M; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
  • Biskup S; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.
  • Fobker M; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
  • Haven J; Zentrum für Sozial- und Neuropädiatrie, Vivantes Klinikum Neukölln, Berlin, Germany.
  • Mangels U; Department of General Pediatrics, University of Münster, Münster, Germany.
  • Reunert J; CeGAT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Rust S; Center for Laboratory Medicine, University Hospital Münster, Münster, Germany.
  • Schoof J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.
  • Schwanke C; Department of General Pediatrics, University of Münster, Münster, Germany.
  • Smoller JW; Department of General Pediatrics, University of Münster, Münster, Germany.
  • Cummings RD; Department of General Pediatrics, University of Münster, Münster, Germany.
  • Marquardt T; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.
J Inherit Metab Dis ; 43(6): 1370-1381, 2020 11.
Article em En | MEDLINE | ID: mdl-32852845
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gânglios da Base / Defeitos Congênitos da Glicosilação / Proteínas de Transporte de Cátions Tipo de estudo: Clinical_trials Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suécia País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gânglios da Base / Defeitos Congênitos da Glicosilação / Proteínas de Transporte de Cátions Tipo de estudo: Clinical_trials Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suécia País de publicação: Estados Unidos