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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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| Publicado no: | Kidney Int |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | 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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