首页> American journal of medical genetics. Part A> DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

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第一作者： Giuseppe,Reynolds

第一单位： Postgraduate School of Pediatrics, Department of Public Health and Pediatrics, University of Turin, Turin, Italy.;Department of Public Health and Pediatrics, University of Turin, Turin, Italy.

作者： Giuseppe,Reynolds ^[1] ; Ilaria,Carelli ^[2] ; Federico,Rondot ^[2] ; Stefania,Massuras ^[3] ; Veronica,Pagliardini ^[4] ; Vincenza,Gragnaniello ^[5] ; Alberto B,Burlina ^[5] ; Sara,Resciniti ^[6] ; Simona,Agata ^[6] ; Davide,Colavito ^[6] ; Alessandro,Mussa ^[7]

作者单位： Postgraduate School of Pediatrics, Department of Public Health and Pediatrics, University of Turin, Turin, Italy.;Department of Public Health and Pediatrics, University of Turin, Turin, Italy. ^[1] Department of Medical Sciences, University of Turin, Turin, Italy. ^[2] Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Torino, Italy. ^[3] Pediatric Inborn Errors of Metabolism, Department of Pediatrics, Regina Margherita Children's Hospital, Torino, Italy. ^[4] Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padua, Padua, Italy. ^[5] Research & Innovation (R&I Genetics) Srl, Padua, Italy. ^[6] Department of Public Health and Pediatrics, University of Turin, Turin, Italy.;Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Torino, Italy. ^[7]

关键词 DDOST N‐glycosylation pathway congenital disorders of glycosylation neurodevelopmental delay