The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome

Melikyan, M; Gubaeva, D; Nikitina, I; Ryzhkova, D; Mitrofanova, L; Yukhacheva, D; Pershin, D; Shcherbina, A; Vasilyev, E; Proshchina, A; Krivova, Y; Tiulpakov, A

Melikyan, M (通讯作者),Endocrinol Res Ctr, Dept Pediat Endocrinol, 11 Dm Ulyanova St, Moscow 117036, Russia.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (3): 405

Abstract

Objectives: Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening......

Full Text Link