Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shahid Sadoughi University of Medical Sciences
2022-12-01
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| Series: | International Journal of Reproductive BioMedicine |
| Subjects: | |
| Online Access: | https://doi.org/10.18502/ijrm.v20i12.12567 |