Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.

Autor: Li C; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Nanjing AscendRare Pharmaceutical Technology Co., Nanjing, China., Juliana CA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA., Yuan Y; Nanjing AscendRare Pharmaceutical Technology Co., Nanjing, China., Li M; Department of Endocrinology, National Health Commission (NHC) Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Lu M; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA., Chen P; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA., Boodhansingh KE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA., Doliba NM; Institute of Diabetes, Obesity and Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Bhatti TR; Department of Pathology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Adzick NS; Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., Stanley CA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA., De León DD; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Publikováno v: Diabetes [Diabetes] 2023 Dec 01; Vol. 72 (12), pp. 1809-1819.

Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.

Autor: Boodhansingh KE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rosenfeld E; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Lord K; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Adzick NS; Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bhatti T; Department of Pathology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ganguly A; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., De Leon DD; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Stanley CA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2022; Vol. 95 (5), pp. 492-498. Date of Electronic Publication: 2022 Aug 11.

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Autor: Gibson CE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Boodhansingh KE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li C; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Conlin L; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Chen P; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Becker SA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bhatti T; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bamba V; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Adzick NS; Department of Surgery, The Children's Hospital of Philadelphia, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., De Leon DD; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ganguly A; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Stanley CA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2018; Vol. 89 (6), pp. 413-422. Date of Electronic Publication: 2018 Jun 14.

Functional and Metabolomic Consequences of K ATP Channel Inactivation in Human Islets.

Autor: Li C; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA li@email.chop.edu deleon@email.chop.edu.; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Ackermann AM; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Boodhansingh KE; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Bhatti TR; Department of Pathology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Liu C; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Schug J; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Doliba N; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Han B; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, U.K., Cosgrove KE; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, U.K., Banerjee I; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, U.K., Matschinsky FM; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Nissim I; Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Kaestner KH; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Naji A; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Adzick NS; Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Dunne MJ; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, U.K., Stanley CA; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., De León DD; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA li@email.chop.edu deleon@email.chop.edu.; Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Publikováno v: Diabetes [Diabetes] 2017 Jul; Vol. 66 (7), pp. 1901-1913. Date of Electronic Publication: 2017 Apr 25.

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

Autor: Martin GM; From the Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239., Rex EA; From the Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239., Devaraneni P; From the Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239., Denton JS; the Department of Anesthesiology, Vanderbilt University, Nashville, Tennessee 37232, and., Boodhansingh KE; the Division of Endocrinology/Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104., DeLeon DD; the Division of Endocrinology/Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104., Stanley CA; the Division of Endocrinology/Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104., Shyng SL; From the Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239, shyngs@ohsu.edu.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2016 Oct 14; Vol. 291 (42), pp. 21971-21983. Date of Electronic Publication: 2016 Aug 29.