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Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.
Boodhansingh, Kara E; Yang, Zhongying; Li, Changhong; Chen, Pan; Lord, Katherine; Becker, Susan A; States, Lisa J; Adzick, N Scott; Bhatti, Tricia; Shyng, Show-Ling; Ganguly, Arupa; Stanley, Charles A; De Leon, Diva D.
Afiliação
  • Boodhansingh KE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Yang Z; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, Oregon, USA.
  • Li C; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Chen P; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Lord K; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Becker SA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • States LJ; Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Adzick NS; Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bhatti T; Department of Radiology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Shyng SL; Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Ganguly A; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Stanley CA; Department of Pathology, ,The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • De Leon DD; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, Oregon, USA.
Eur J Endocrinol ; 187(2): 301-313, 2022 Aug 01.
Article em En | MEDLINE | ID: mdl-35674212

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hiperinsulinismo Congênito / Receptores de Sulfonilureias / Quinases do Centro Germinativo Limite: Child / Humans Idioma: En Revista: Eur J Endocrinol Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hiperinsulinismo Congênito / Receptores de Sulfonilureias / Quinases do Centro Germinativo Limite: Child / Humans Idioma: En Revista: Eur J Endocrinol Ano de publicação: 2022 Tipo de documento: Article