Original paper
G6PC3 Deficiency
Volume: 37, Issue: 8, Pages: 616 - 622
Published: Nov 1, 2015
Abstract
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital heart defects, urogenital malformations, endocrine abnormalities, and prominent superficial veins. Here, we report 3 patients with G6PC3 deficiency presenting with recurrent diarrhea, failure to thrive, and sinopulmonary infections leading to bronchiectasis. In patient I and II, a combined...
Paper Details
Title
G6PC3 Deficiency
Published Date
Nov 1, 2015
Volume
37
Issue
8
Pages
616 - 622
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Notes
History