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Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Coci, Emanuele G; Codutti, Luca; Fink, Christian; Bartsch, Sophie; Grüning, Gunnar; Lücke, Thomas; Kurth, Ingo; Riedel, Joachim.
Affiliation
  • Coci EG; Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany. Electronic address: Emanuele.Coci@akh-celle.de.
  • Codutti L; Institute of Organic Chemistry, Centre of Biomolecular Drug Research (BMWZ), Leibniz University of Hannover, 30167 Hannover, Germany.
  • Fink C; Department of Radiology, General Hospital of Celle, 29221 Celle, Germany.
  • Bartsch S; Institute of Human Genetics, University Hospital of Jena, 07743 Jena, Germany.
  • Grüning G; Department of Pediatrics, General Hospital of Celle, 29221 Celle, Germany.
  • Lücke T; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
  • Kurth I; Institute of Human Genetics, University Hospital of Jena, 07743 Jena, Germany.
  • Riedel J; Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.
Mol Cell Probes ; 32: 18-23, 2017 04.
Article in En | MEDLINE | ID: mdl-27856333
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Full text: 1 Database: MEDLINE Main subject: Mutation, Missense / Aldehyde Dehydrogenase / Epilepsy Type of study: Etiology_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Mol Cell Probes Journal subject: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Year: 2017 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Mutation, Missense / Aldehyde Dehydrogenase / Epilepsy Type of study: Etiology_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Mol Cell Probes Journal subject: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Year: 2017 Type: Article