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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt, Guido; El Choubassi, Naji; Herczegfalvi, Ágnes; Kölbel, Heike; Lekaj, Anja; Schara, Ulrike; Holtgrewe, Manuel; Krause, Sabine; Horvath, Rita; Schuelke, Markus; Hübner, Christoph; Mundlos, Stefan; Roos, Andreas; Lochmüller, Hanns; Karcagi, Veronika; Kornak, Uwe; Fischer-Zirnsak, Björn.
Afiliación
  • Vogt G; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • El Choubassi N; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.
  • Herczegfalvi Á; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Kölbel H; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.
  • Lekaj A; Department of Pediatric Neurology, Semmelweis Medical University, II. Pediatric Clinic, Budapest, Hungary.
  • Schara U; Department of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Holtgrewe M; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Krause S; Department of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Horvath R; CUBI - Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.
  • Schuelke M; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
  • Hübner C; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Mundlos S; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Roos A; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Lochmüller H; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Karcagi V; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.
  • Kornak U; Department of Pediatric Neurology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Fischer-Zirnsak B; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
J Inherit Metab Dis ; 44(4): 972-986, 2021 07.
Article en En | MEDLINE | ID: mdl-33320377
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Cutis Laxo / ATPasas de Translocación de Protón Vacuolares Tipo de estudio: Observational_studies Límite: Adolescent / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Cutis Laxo / ATPasas de Translocación de Protón Vacuolares Tipo de estudio: Observational_studies Límite: Adolescent / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania