Cargando…
Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea
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, aside from rare accompanying conditions, such as fatigu...
Autores principales: | Kim, Youngji, Yang, Ye Seul, Park, Sung Sup, Kim, Man Jin, Shin, Cheol Min, Choi, Sung Hee |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597461/ https://www.ncbi.nlm.nih.gov/pubmed/31250585 http://dx.doi.org/10.3349/ymj.2019.60.7.700 |
Ejemplares similares
-
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia
por: Minchiotti, Lorenzo, et al.
Publicado: (2019) -
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia
por: Litzel, Martin, et al.
Publicado: (2020) -
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
por: Caridi, Gianluca, et al.
Publicado: (2016) -
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene
por: Caridi, Gianluca, et al.
Publicado: (2014) -
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report
por: Suppressa, Patrizia, et al.
Publicado: (2019)