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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A; Boltshauser, Eugen; Bierau, Jörgen; Mayr, Johannes A; Wortmann, Saskia B.
Afiliación
  • Rymen D; Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
  • Lindhout M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Spanou M; 3rd Paediatric Department, Attikon University Hospital, Athens, Greece.
  • Ashrafzadeh F; Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Benkel I; Klinik für Kinderneurologie und Kinderneurologisches Zentrum, EEG, Sana Kliniken Düsseldorf GmbH, Düsseldorf, Germany.
  • Betzler C; Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany.
  • Coubes C; Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria.
  • Hartmann H; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU, Montpellier, France.
  • Kaplan JD; Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Ballhausen D; Nemours A.I. DuPont Hospital for Children, Department of Pediatrics, Division of Medical Genetics, Wilmington, Delaware, DE, USA.
  • Koch J; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, MS, USA.
  • Lotte J; Pediatric unit for metabolic diseases, Woman-Mother-Child Department, University Hospital Lausanne, Lausanne, Switzerland.
  • Mohammadi MH; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Rohrbach M; Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany.
  • Dinopoulos A; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.
  • Wermuth M; Division of Metabolism and Children's Research Centre, University Children's Hospital, 8032, Zürich, Switzerland.
  • Willis D; 3rd Paediatric Department, Attikon University Hospital, Athens, Greece.
  • Brugger K; Department of Pediatrics, Klinikum Links der Weser, Bremen, Germany.
  • Wevers RA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Boltshauser E; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Bierau J; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
  • Mayr JA; Department of Pediatric Neurology, Children's University Hospital, Zürich, Switzerland.
  • Wortmann SB; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Genet Med ; 22(10): 1589-1597, 2020 10.
Article en En | MEDLINE | ID: mdl-32820246
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsia Tipo de estudio: Observational_studies Idioma: En Revista: Genet Med Año: 2020 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsia Tipo de estudio: Observational_studies Idioma: En Revista: Genet Med Año: 2020 Tipo del documento: Article País de afiliación: Bélgica