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Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.
Flotats-Bastardas, Marina; Hebert, Eva; Raspall-Chaure, Miquel; Munell, Francina; Macaya, Alfons; Lohmann, Katja.
Affiliation
  • Flotats-Bastardas M; Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany.
  • Hebert E; Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain.
  • Raspall-Chaure M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Munell F; Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain.
  • Macaya A; Department of Pediatric Neurology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain.
  • Lohmann K; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
Neuropediatrics ; 49(4): 296-297, 2018 08.
Article in En | MEDLINE | ID: mdl-29471552
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Full text: 1 Database: MEDLINE Main subject: Dystonic Disorders / GTP Cyclohydrolase / Heterozygote / Mutation Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Neuropediatrics Year: 2018 Type: Article Affiliation country: Germany
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Full text: 1 Database: MEDLINE Main subject: Dystonic Disorders / GTP Cyclohydrolase / Heterozygote / Mutation Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Neuropediatrics Year: 2018 Type: Article Affiliation country: Germany