Article
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
The Journal of clinical endocrinology and metabolism - 1 Apr 2020
Männistö Jonna M E, Maria Maleeha, Raivo Joose, Kuulasmaa Teemu, Otonkoski Timo, Huopio Hanna, Laakso Markku
Abstract excerpt
CONTEXT: Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI). OBJECTIVE: To examine the genetics and clinical characteristics of patients with persistent and transient CHI. DESIGN: A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism. PATIENTS: Genetic and phenotypic data were collected from 153 patients...
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