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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Déborah; Wulf, Marie-Angela; Nägele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L; Hornemann, Thorsten; Thony, Beat; Kölker, Stefan; Burda, Patricie; Froese, D Sean; Devuyst, Olivier; Baumgartner, Matthias R.
Afiliação
  • Forny P; From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Zurich Center for Integrative Human Physiology.
  • Schumann A; From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Institute of Physiology, University of Zurich, 8057 Zurich, Switzerland.
  • Mustedanagic M; From the Division of Metabolism.
  • Mathis D; the Division of Clinical Chemistry and Biochemistry, and.
  • Wulf MA; Institute of Neuropathology and.
  • Nägele N; the Institute of Physiology, University of Zurich, 8057 Zurich, Switzerland.
  • Langhans CD; the Division of Child Neurology and Inherited Metabolic Diseases, University Children's Hospital, 69120 Heidelberg, Germany.
  • Zhakupova A; Institute of Clinical Chemistry, University Hospital Zurich, 8006 Zurich, Switzerland.
  • Heeren J; the Department of Biochemistry and Molecular Cell Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany, and.
  • Scheja L; the Department of Biochemistry and Molecular Cell Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany, and.
  • Fingerhut R; the Children's Research Center, the Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
  • Peters HL; the Murdoch Children's Research Institute, Metabolic Research, Parkville, Victoria 3052, Australia.
  • Hornemann T; the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, Institute of Clinical Chemistry, University Hospital Zurich, 8006 Zurich, Switzerland.
  • Thony B; From the Division of Metabolism, the Children's Research Center.
  • Kölker S; the Division of Child Neurology and Inherited Metabolic Diseases, University Children's Hospital, 69120 Heidelberg, Germany.
  • Burda P; From the Division of Metabolism, the Children's Research Center.
  • Froese DS; From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland.
  • Devuyst O; the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Zurich Center for Integrative Human Physiology, the Institute of Physiology, University of Zurich, 8057 Zurich, Switzerland.
  • Baumgartner MR; From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Zurich Center for Integrative Human Physiology, matthias.baumgartner@kispi.uzh.ch.
J Biol Chem ; 291(39): 20563-73, 2016 09 23.
Article em En | MEDLINE | ID: mdl-27519416
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Dosagem de Genes / Característica Quantitativa Herdável / Erros Inatos do Metabolismo dos Aminoácidos / Metilmalonil-CoA Mutase Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Dosagem de Genes / Característica Quantitativa Herdável / Erros Inatos do Metabolismo dos Aminoácidos / Metilmalonil-CoA Mutase Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Ano de publicação: 2016 Tipo de documento: Article