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Autosomal dominant tubulointerstitial kidney disease: A review
(2022)
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many patients reaching end stage renal disease ...
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds
(2022)
Cytotoxicity of de novo purine synthesis (DNPS) metabolites is critical to the pathogenesis of three known and one putative autosomal recessive disorder affecting DNPS. These rare disorders are caused by biallelic mutations ...
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
(2022)
This article is a preprint and has not been certified by peer review.