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Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar, Nurulamin; Ashikov, Angel; Brum, Jaime Moritz; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Keng, Wee Teik; Speck-Martins, Carlos Eduardo; de Carvalho, Daniel Rocha; de Rizzo, Isabela Maria Pinto Oliveira; de Mello, Walquiria Domingues; Heiner-Fokkema, Rebecca; Gorman, Kathleen; Grunewald, Stephanie; Michelakakis, Helen; Moraitou, Marina; Martinelli, Diego; van Scherpenzeel, Monique; Janssen, Mirian; de Boer, Lonneke; van den Heuvel, Lambertus P; Thiel, Christian; Lefeber, Dirk J.
Afiliação
  • Abu Bakar N; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ashikov A; Department of Pathology, Selayang Hospital, Selangor, Ministry of Health Malaysia, Putrajaya, Malaysia.
  • Brum JM; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Smeets R; Department of Clinical Pathology, The Sarah Network of Rehabilitation Hospitals, Brasilia, Brazil.
  • Kersten M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Huijben K; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Keng WT; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Speck-Martins CE; Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Ministry of Health Malaysia, Putrajaya, Malaysia.
  • de Carvalho DR; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil.
  • de Rizzo IMPO; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil.
  • de Mello WD; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil.
  • Heiner-Fokkema R; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil.
  • Gorman K; Department of Laboratory Medicine, UMC Groningen, Groningen, The Netherlands.
  • Grunewald S; Pediatric Neurology, Children's Health Ireland (CHI), Dublin, Ireland.
  • Michelakakis H; Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust Institute of Child Health, University College London, London, UK.
  • Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
  • Martinelli D; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
  • van Scherpenzeel M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, Rome, Italy.
  • Janssen M; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Boer L; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Heuvel LP; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Thiel C; Department of Pediatrics, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lefeber DJ; Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany.
J Inherit Metab Dis ; 45(4): 769-781, 2022 07.
Article em En | MEDLINE | ID: mdl-35279850
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos