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Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny, Patrick; Schnellmann, Anne-Sophie; Buerer, Celine; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R.
Affiliation
  • Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.
  • Schnellmann AS; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
  • Buerer C; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
  • Lutz S; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.
  • Fowler B; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.
  • Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.
  • Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.
Hum Mutat ; 37(8): 745-54, 2016 08.
Article in En | MEDLINE | ID: mdl-27167370
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Full text: 1 Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Methylmalonyl-CoA Mutase / Mutation Type of study: Diagnostic_studies Limits: Humans Language: En Year: 2016 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Methylmalonyl-CoA Mutase / Mutation Type of study: Diagnostic_studies Limits: Humans Language: En Year: 2016 Type: Article