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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer, Monica; Edmondson, Andrew C; Khetarpal, Sumeet A; Alesi, Viola; Zaki, Maha S; Rostasy, Kevin; Madsen, Camilla G; Lepri, Francesca R; Sinibaldi, Lorenzo; Cusmai, Raffaella; Novelli, Antonio; Issa, Mahmoud Y; Fenger, Christina D; Abou Jamra, Rami; Reutter, Heiko; Briuglia, Silvana; Agolini, Emanuele; Hansen, Lars; Petäjä-Repo, Ulla E; Hintze, John; Raymond, Kimiyo M; Liedtke, Kristen; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Vitali, Cecilia; O'Brien, W Timothy; Gardella, Elena; Rubboli, Guido; Rader, Daniel J; Schjoldager, Katrine T; Møller, Rikke S.
Afiliação
  • Zilmer M; Department of Paediatrics, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.
  • Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Khetarpal SA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Alesi V; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Zaki MS; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Rostasy K; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Madsen CG; Department of Paediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, 45711 Datteln, Germany.
  • Lepri FR; Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, 2650 Hvidovre, Denmark.
  • Sinibaldi L; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Cusmai R; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Novelli A; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Issa MY; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Fenger CD; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Abou Jamra R; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.
  • Reutter H; Amplexa Genetics A/S, 5000 Odense C, Denmark.
  • Briuglia S; Institute of Human Genetics, University of Leipzig, 04103 Leipzig, Germany.
  • Agolini E; Department of Neonatology and Pediatric Intensive Care, University Hospital of Bonn, 53012 Bonn, Germany.
  • Hansen L; Institute of Human Genetics, University Hospital of Bonn, 53012 Bonn, Germany.
  • Petäjä-Repo UE; Medical Genetics of Messina University, 98125 Messina, Italy.
  • Hintze J; Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Raymond KM; Copenhagen Centre for Glycomics, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, 2200 Copenhagen N, Denmark.
  • Liedtke K; Research Unit of Biomedicine, University of Oulu, 90014 University of Oulu, Finland.
  • Stanley V; Copenhagen Centre for Glycomics, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, 2200 Copenhagen N, Denmark.
  • Musaev D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Gleeson JG; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Vitali C; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, CA 92093, USA.
  • O'Brien WT; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, CA 92093, USA.
  • Gardella E; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, CA 92093, USA.
  • Rubboli G; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Rader DJ; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Schjoldager KT; Department of Neurophysiology, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.
  • Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, 4293 Dianalund, Denmark.
Brain ; 143(4): 1114-1126, 2020 04 01.
Article em En | MEDLINE | ID: mdl-32293671
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / N-Acetilgalactosaminiltransferases / Apolipoproteína C-III Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / N-Acetilgalactosaminiltransferases / Apolipoproteína C-III Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article