Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series

• Main Authors: Maryam Hassanlou (Author), Maryam Abiri (Author), Sirous Zeinali (Author)
• פורמט: ספר
• יצא לאור: Shahid Sadoughi University of Medical Sciences, 2022-12-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth. Cases presentation: 7 families from Southwest Iran having one or more children in their famil...