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Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G [Formula: see text] A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
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 families or re...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Knowledge E
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928974/ https://www.ncbi.nlm.nih.gov/pubmed/36819208 http://dx.doi.org/10.18502/ijrm.v20i12.12567 |