The list of 36 drugs, which are exempt from basic customs duty, includes many expensive and imported medicines that can otherwise become a financial burden for a patient's family ...

This important study addresses the idea that defective lysosomal clearance might be causal to renal dysfunction in cystinosis. With mostly solid data, the authors observe that restoring expression of ...

In most cases, abnormal lysosomal storage is the consequence of defects in lysosomal hydrolases, which lead to the accumulation of nonmetabolized macromolecules. However, abnormal storage of ...

The novel findings are ATP6V0A1’s role in cystinosis-associated renal pathology and among other antioxidants, ATX specifically upregulated ATP6V0A1, improved autophagosome turnover or reduced ...