Detection and molecular diagnosis of a new case of congenital analbuminaemia.
Sign Up to like & getrecommendations! Published in 2020 at "Medicina clinica"
DOI: 10.1016/j.medcli.2019.10.013
Abstract: INTRODUCTION AND OBJECTIVES Congenital analbuminaemia (CCA) (MIM #616000) is an autosomal recessive disorder (prevalence < 1/106) caused by defects in the ALB gene leading to absence or severe reduction of albuminaemia. This paper describes a… read more here.
Keywords: detection molecular; analbuminaemia; case; molecular diagnosis ... See more keywords
Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0087
Abstract: Abstract Objectives Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene. Case presentation We report, a three-year-old boy with FDH due to p.R242P (or p.R218P… read more here.
Keywords: familial dysalbuminemic; molecular diagnosis; gene; dysalbuminemic hyperthyroxinemia ... 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