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In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Lucienne, Marie; Aguilar-Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Calzada-Wack, Julia; da Silva-Buttkus, Patricia; Garrett, Lillian; Hölter, Sabine M; Mayer-Kuckuk, Philipp; Rathkolb, Birgit; Rozman, Jan; Spielmann, Nadine; Treise, Irina; Busch, Dirk H; Klopstock, Thomas; Schmidt-Weber, Carsten; Wolf, Eckhard; Wurst, Wolfgang; Forny, Merima; Mathis, Déborah; Fingerhut, Ralph; Froese, D Sean; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin Hrabe; Baumgartner, Matthias R.
Afiliación
  • Lucienne M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland; Zurich Center for Integrative Human Physiology,
  • Aguilar-Pimentel JA; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Amarie OV; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Becker L; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Calzada-Wack J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • da Silva-Buttkus P; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Garrett L; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Hölter SM; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Mayer-Kuckuk P; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Rathkolb B; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University München, Munich, Germany; German Center for D
  • Rozman J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany.
  • Spielmann N; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Treise I; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Busch DH; Institute for Medical Microbiology, Immunology and Hygiene, Technical University of Munich, Trogerstrasse 30, 81675 Munich, Germany.
  • Klopstock T; German Center for Diabetes Research (DZD), Neuherberg, Germany; Department of Neurology, Friedrich-Baur-Institut, Ludwig-Maximilians-Universität München, Ziemssenstrasse 1a, 80336 Munich, Germany; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Schillerstrasse 44, 80336 Mun
  • Schmidt-Weber C; Center of Allergy & Environment (ZAUM), Technische Universität München, and Helmholtz Zentrum München, Neuherberg, Germany.
  • Wolf E; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University München, Munich, Germany.
  • Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Schillerstrasse 44, 80336 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), A
  • Forny M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
  • Mathis D; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Switzerland.
  • Fingerhut R; Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, Zurich, Switzerland.
  • Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
  • Gailus-Durner V; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Fuchs H; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • de Angelis MH; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany; Chair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, Te
  • Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland; Zurich Center for Integrative Human Physiology,
Biochim Biophys Acta Mol Basis Dis ; 1866(3): 165622, 2020 03 01.
Article en En | MEDLINE | ID: mdl-31770620

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos / Metilmalonil-CoA Mutasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos / Metilmalonil-CoA Mutasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Año: 2020 Tipo del documento: Article