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Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.

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第一作者： Herodes,Guzman

第一单位： Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.;Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

作者： Herodes,Guzman ^[1] ; Sahr,Yazdani ^[2] ; Jennifer L,Harmon ^[3] ; Kimberly A,Chapman ^[3] ; Bernadette,Vitola ^[4] ; Louise,Pyle ^[3] ; Heather,McKnight ^[5] ; Winnie,Sigal ^[6] ; Katherine,Lord ^[6] ; Diva D,De Leon ^[6] ; Nadia,Merchant ^[7] ; Rebecca,Ganetzky ^[8]

作者单位： Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.;Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States. ^[1] Division of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States. ^[2] Rare Disease Institute, Children's National Hospital, Washington, DC, United States. ^[3] Division of Gastroenterology, Hepatology and Nutrition, Children's National Hospital, Washington, DC, United States.;Transplant Institute, MedStar Georgetown University Hospital, Washington, DC, United States. ^[4] Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States. ^[5] Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.;Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States. ^[6] Rare Disease Institute, Children's National Hospital, Washington, DC, United States.;Division of Endocrinology and Diabetes, Children's National Hospital, Washington, DC, United States. ^[7] Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.;Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States. ^[8]

关键词 DGUOK exome hyperinsulinism hypoglycemia mitochondria