Materials and methods
2.1. Patients
Two boys with CNSHA (proband nos. 1 and 2) were referred at the age of 3.3 and 2.8 years, respectively, for clinical, biochemical, and mo- lecular characterization due to CNSHA.
Both had similar clinical signs and symptoms: neonatal jaundice that required phototherapy, CNSHA, and several episodes of acute hemolytic attacks. Cholecystectomy was performed in both patients at the age of 12.3 years (proband no. 1) and 11.9 years (proband no. 2).