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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...
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| Vydáno v: | Kidney Int |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| Témata: | |
| On-line přístup: | 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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