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SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
Yates, T Michael; Suri, Mohnish; Desurkar, Archana; Lesca, Gaetan; Wallgren-Pettersson, Carina; Hammer, Trine B; Raghavan, Ashok; Poulat, Anne-Lise; Møller, Rikke S; Thuresson, Ann-Charlotte; Balasubramanian, Meena.
Afiliación
  • Yates TM; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.
  • Desurkar A; Department of Paediatric Neurology, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Lesca G; Hospices Civils de Lyon, Service de Génétique, CHU de Lyon, Lyon, France.
  • Wallgren-Pettersson C; Department of Medical and Clinical Genetics, University of Helsinki and the Folkhaelsan Institute of Genetics, Helsinki, Finland.
  • Hammer TB; The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Raghavan A; Department of Radiology, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Poulat AL; Hospices Civils de Lyon, Service de Génétique, CHU de Lyon, Lyon, France.
  • Møller RS; The Danish Epilepsy Center Filadelfia, Dianalund, Denmark; Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Thuresson AC; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
  • Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK. Electronic address: meena.balasubramanian@nhs.net.
Eur J Paediatr Neurol ; 22(6): 1095-1102, 2018 Nov.
Article en En | MEDLINE | ID: mdl-30194038

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas de Transporte de Monosacáridos / Trastornos Congénitos de Glicosilación Límite: Child / Female / Humans / Infant Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas de Transporte de Monosacáridos / Trastornos Congénitos de Glicosilación Límite: Child / Female / Humans / Infant Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido