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MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
Post, Merel A; de Wit, Isis; Zijlstra, Fokje S M; Engelke, Udo F H; van Rooij, Arno; Christodoulou, John; Tan, Tiong Yang; Le Fevre, Anna; Jin, Danqun; Yaplito-Lee, Joy; Lee, Beom Hee; Low, Karen J; Mallick, Andrew A; Õunap, Katrin; Pitt, James; Reardon, William; Vals, Mari-Anne; Wortmann, Saskia B; Wessels, Hans J C T; Bärenfänger, Melissa; van Karnebeek, Clara D M; Lefeber, Dirk J.
Afiliação
  • Post MA; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Wit I; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Zijlstra FSM; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Engelke UFH; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Rooij A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Christodoulou J; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Tan TY; Genomic Medicine Research Theme, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Le Fevre A; Genomic Medicine Research Theme, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Jin D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Yaplito-Lee J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Lee BH; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, China.
  • Low KJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Mallick AA; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Parkville, Australia.
  • Õunap K; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Pitt J; School of Clinical Sciences, University of Bristol, Bristol, UK.
  • Reardon W; Clinical Genetics, St. Michael's Hospital, University Hospitals NHS Trust, Bristol, UK.
  • Vals MA; Department of Pediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.
  • Wortmann SB; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
  • Wessels HJCT; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Bärenfänger M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • van Karnebeek CDM; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland.
  • Lefeber DJ; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
J Inherit Metab Dis ; 46(2): 313-325, 2023 03.
Article em En | MEDLINE | ID: mdl-36651519
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article