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NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek, Clara D M; Bonafé, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valérie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J; Van Allen, Margot I; Rossi, Andrea; Engelke, Udo F; Kluijtmans, Leo A J; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J; Wevers, Ron A; Superti-Furga, Andrea.
Afiliación
  • van Karnebeek CD; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Bonafé L; Centre for Molecular Medicine, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
  • Wen XY; Centre for Molecular Diseases, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
  • Tarailo-Graovac M; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Balzano S; Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Royer-Bertrand B; Centre for Molecular Medicine, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
  • Ashikov A; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Garavelli L; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
  • Mammi I; Centre for Molecular Diseases, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
  • Turolla L; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
  • Breen C; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Donnai D; Clinical Genetics Unit, IRCCS-S. Maria Nuova Hospital, Reggio Emilia, Italy.
  • Cormier-Daire V; Ambulatorio di Genetica Medica ULSS 13, U.O. Ginecologia e Ostetricia, Ospedale Dolo, Dolo, Italy.
  • Heron D; Medical Genetics Unit, Local Health Authority (ULSS 9), Treviso, Italy.
  • Nishimura G; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Uchikawa S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Campos-Xavier B; Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
  • Rossi A; Ambulatorio di Genetica Medica ULSS 13, U.O. Ginecologia e Ostetricia, Ospedale Dolo, Dolo, Italy.
  • Hennet T; Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Brand-Arzamendi K; Department of Orthopedics, National Center for Child Health and Development, Tokyo, Japan.
  • Rozmus J; Centre for Molecular Diseases, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
  • Harshman K; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy.
  • Stevenson BJ; Department of Physiology, University of Zürich, Zurich, Switzerland.
  • Girardi E; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Ontario, Canada.
  • Superti-Furga G; Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Dewan T; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Collingridge A; Genomic Technologies Facility, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
  • Halparin J; Vital-IT Group, Swiss Institute of Bioinformatics, University of Lausanne, Lausanne, Switzerland.
  • Ross CJ; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Van Allen MI; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Rossi A; Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
  • Engelke UF; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Kluijtmans LA; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • van der Heeft E; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Renkema H; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • de Brouwer A; Centre for Molecular Medicine, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
  • Huijben K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Zijlstra F; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Heise T; Neuroradiology Department, G. Gaslini Children's Hospital, Genoa, Italy.
  • Boltje T; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Wasserman WW; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Rivolta C; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Unger S; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lefeber DJ; Department of Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Superti-Furga A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Nat Genet ; 48(7): 777-84, 2016 07.
Article en En | MEDLINE | ID: mdl-27213289
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ácidos Siálicos / Enfermedades del Desarrollo Óseo / Pez Cebra / Encéfalo / Discapacidades del Desarrollo / Oxo-Ácido-Liasas / Mutación Límite: Adult / Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ácidos Siálicos / Enfermedades del Desarrollo Óseo / Pez Cebra / Encéfalo / Discapacidades del Desarrollo / Oxo-Ácido-Liasas / Mutación Límite: Adult / Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Canadá