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Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).
Gilis-Januszewska, Aleksandra; Boguslawska, Anna; Kowalik, Artur; Rzepka, Ewelina; Soczówka, Karolina; Przybylik-Mazurek, Elwira; Glowa, Boguslaw; Hubalewska-Dydejczyk, Alicja.
Afiliação
  • Gilis-Januszewska A; Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, Medical College, Jagiellonian University, 31-008 Cracow, Poland.
  • Boguslawska A; Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, Medical College, Jagiellonian University, 31-008 Cracow, Poland.
  • Kowalik A; Department of Molecular Diagnostics, Holycross Cancer Center, 25-734 Kielce, Poland.
  • Rzepka E; Division of Medical Biology, Institute of Biology, Jan Kochanowski University, 25-406 Kielce, Poland.
  • Soczówka K; Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, Medical College, Jagiellonian University, 31-008 Cracow, Poland.
  • Przybylik-Mazurek E; Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, Medical College, Jagiellonian University, 31-008 Cracow, Poland.
  • Glowa B; Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, Medical College, Jagiellonian University, 31-008 Cracow, Poland.
  • Hubalewska-Dydejczyk A; Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, Medical College, Jagiellonian University, 31-008 Cracow, Poland.
Genes (Basel) ; 12(10)2021 10 01.
Article em En | MEDLINE | ID: mdl-34680961

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Hiperinsulinismo Congênito / Mutação com Ganho de Função / Glucoquinase Limite: Adult / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Hiperinsulinismo Congênito / Mutação com Ganho de Função / Glucoquinase Limite: Adult / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article