A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

BACKGROUND: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute...

Descripción completa

Detalles Bibliográficos
Autores principales: Vidanapathirana, Dinesha Maduri, Jayasena, Subashinie, Jasinge, Eresha, Stiburkova, Blanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6025733/
https://www.ncbi.nlm.nih.gov/pubmed/29958533
http://dx.doi.org/10.1186/s12887-018-1185-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6025733/
https://www.ncbi.nlm.nih.gov/pubmed/29958533
http://dx.doi.org/10.1186/s12887-018-1185-9

Ejemplares similares