Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan
Author:
Publisher
Springer Science and Business Media LLC
Subject
Urology
Link
https://link.springer.com/content/pdf/10.1007/s00240-022-01338-x.pdf
Reference26 articles.
1. Braun DA, Hildebrandt F (2016) Prevalence of monogenic causes in pediatric patients with nephrolithiasis and nephrocalcinosis. Clin J Am Soc Nephrol 11:664–672
2. Giovanna P (2017) Understanding the pathophysiology of Nephrocalcinosis. IntechOpen
3. Hunter DJ, Lange M (2002) Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (London) 103:259–265
4. Goldfarb DS, Fischer ME, Keich Y, Goldberg J (2005) A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry. Kidney Int 67:1053–1061
5. Milliner DS (2015) Nephrocalcinosis is a risk factor for kidney failure in primary hyperoxaluria. Kidney Int 87:623–631
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1. Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2;Urolithiasis;2024-05-10
2. Molecular Analysis of the AGXT Gene Detected a Missense and Pathogenic Variant Associated with Primary Hyperoxaluria Type 1; a Case Study;2023-11-29
3. Calculus anuria: a urological emergency with an excellent outcome;Urolithiasis;2023-03-16
4. Calculus anuria: A urological emergency with an excellent outcome. A retrospective review of pediatric population from a stone belt country, Pakistan;2023-01-04
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