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Clinical and Functional Characterization of URAT1 Variants

Idiopathic renal hypouricaemia is an inherited form of hypouricaemia, associated with abnormal renal handling of uric acid. There is excessive urinary wasting of uric acid resulting in hypouricaemia. Patients may be asymptomatic, but the persistent urinary abnormalities may manifest as renal stone d...

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Detalles Bibliográficos
Autores principales: Tasic, Velibor, Hynes, Ann Marie, Kitamura, Kenichiro, Cheong, Hae Il, Lozanovski, Vladimir J., Gucev, Zoran, Jutabha, Promsuk, Anzai, Naohiko, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241677/
https://www.ncbi.nlm.nih.gov/pubmed/22194875
http://dx.doi.org/10.1371/journal.pone.0028641