Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.
Sign Up to like & getrecommendations! Published in 2023 at "Annales de biologie clinique"
DOI: 10.1684/abc.2023.1806
Abstract: Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed… read more here.
Keywords: nucleotide variations; compound heterozygous; associated compound; analbuminemia associated ... See more keywords
Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea
Sign Up to like & getrecommendations! Published in 2019 at "Yonsei Medical Journal"
DOI: 10.3349/ymj.2019.60.7.700
Abstract: Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients often exhibit no clinical symptoms,… read more here.
Keywords: congenital analbuminemia; reported korea; case; caa ... See more keywords