Clinical features of genetically-confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening.

Primary hyperoxaluria is a rare monogenic disorder characterized by excessive hepatic production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis and progressive kidney damage. Most patients with primary hyperoxaluria are diagnosed after clinical suspicion based on symptoms. Since s...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Kidney Int
Egile Nagusiak: Sas, David J., Enders, Felicity T., Mehta, Ramila A., Tang, Xiaojing, Zhao, Fang, Seide, Barbara M., Milliner, Dawn S., Lieske, John C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7175669/
https://ncbi.nlm.nih.gov/pubmed/32093915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2019.11.023
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