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Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis.
Sturiale, Luisa; Nassogne, Marie-Cécile; Palmigiano, Angelo; Messina, Angela; Speciale, Immacolata; Artuso, Rosangela; Bertino, Gaetano; Revencu, Nicole; Stephénne, Xavier; De Castro, Cristina; Matthijs, Gert; Barone, Rita; Jaeken, Jaak; Garozzo, Domenico.
Afiliação
  • Sturiale L; CNR, Institute for Polymers, Composites and Biomaterials, IPCB, 95126 Catania, Italy.
  • Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium.
  • Palmigiano A; CNR, Institute for Polymers, Composites and Biomaterials, IPCB, 95126 Catania, Italy.
  • Messina A; CNR, Institute for Polymers, Composites and Biomaterials, IPCB, 95126 Catania, Italy.
  • Speciale I; Department of Chemical Sciences, University of Naples Federico II, 80100 Naples, Italy.
  • Artuso R; Department of Agricultural Sciences, University of Naples Federico II, 80055 Portici, Italy.
  • Bertino G; Medical Genetics Unit, Meyer Children's University Hospital, 50100 Florence, Italy.
  • Revencu N; Hepatology Unit, A.O.U. Policlinico-Vittorio Emanuele, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Stephénne X; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium.
  • De Castro C; Service de Gastro-Entérologie et Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium.
  • Matthijs G; Department of Agricultural Sciences, University of Naples Federico II, 80055 Portici, Italy.
  • Barone R; Department of Human Genetics, Laboratory for Molecular Diagnosis, KU Leuven, 3000 Leuven, Belgium.
  • Jaeken J; CNR, Institute for Polymers, Composites and Biomaterials, IPCB, 95126 Catania, Italy.
  • Garozzo D; Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
iScience ; 24(4): 102323, 2021 Apr 23.
Article em En | MEDLINE | ID: mdl-33889819

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

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