Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Reproductive Biomedicine"
DOI: 10.18502/ijrm.v20i12.12567
Abstract: 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… read more here.
Keywords: southwest iran; argininosuccinate synthetase; citrullinemia type;
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232314940
Abstract: Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1) that catalyzes the third step of the urea cycle. CTLN1 patients suffer from impaired… read more here.
Keywords: gene; behavioral abnormalities; citrullinemia type; vtx 804 ... See more keywords