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The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran, Christel; Turolla, Licia; Ballhausen, Diana; Buros, Sandrine Cornaz; Teav, Tony; Gallart-Ayala, Hector; Ivanisevic, Julijana; Faouzi, Mohamed; Lefeber, Dirk J; Ivanovski, Ivan; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Garavelli, Livia; Superti-Furga, Andrea.
Afiliação
  • Tran C; Center for Molecular Diseases, Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Switzerland.
  • Turolla L; Medical Genetics Unit, Azienda ULSS 2, Treviso, Italy.
  • Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland.
  • Buros SC; Department of Paediatrics, Neuropediatrics, Bern University Hospital, Switzerland.
  • Teav T; Metabolomics Platform, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
  • Gallart-Ayala H; Metabolomics Platform, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
  • Ivanisevic J; Metabolomics Platform, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
  • Faouzi M; Division of Biostatistics, Center for Primary Care and Public Health (Unisanté), University of Lausanne, Switzerland.
  • Lefeber DJ; Translational Metabolic Laboratory, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Ivanovski I; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Giangiobbe S; Institute of Medical Genetics, University of Zurich, Switzerland.
  • Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Garavelli L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Superti-Furga A; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Mol Genet Metab Rep ; 28: 100777, 2021 Sep.
Article em En | MEDLINE | ID: mdl-34258226

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article