Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00240-024-01579-y.pdf
Reference25 articles.
1. Talati JJ, Hulton SA, Garrelfs SF et al (2018) Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. Urolithiasis 46(2):187–195. https://doi.org/10.1007/s00240-017-0996-8
2. Hashmi S, Abid A, Sultan S et al (2022) Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan. Urolithiasis 50(4):439–445. https://doi.org/10.1007/s00240-022-01338-x
3. Abid A, Raza A, Khan AR et al (2023) Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants. Clin Genet 103(1):53–66. https://doi.org/10.1111/cge.14240
4. Garrelfs SF, Rumsby G, Peters-Sengers H et al (2019) Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int 96(6):1389–1399. https://doi.org/10.1016/j.kint.2019.08.018
5. Singh P, Viehman JK, Mehta RA et al (2022) Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2. Nephrol Dial Transpl 37(5):869–875. https://doi.org/10.1093/ndt/gfab027
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