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...

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Detalles Bibliográficos
Autores principales: Hassanlou, Maryam, Abiri, Maryam, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Knowledge E 2023
Materias:
Case Series
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

Internet

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

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