biostudies-literatureUnknown16(8)Urizar EGeneshttps://www.ebi.ac.uk/biostudies/studies/S-EPMC12385809biostudies-literatureGenetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage DisordersPMC12385809Farrugia MCooper JMcCarron EBentley ALin SSenarathne UWoolfson PMenendez Lorenzo JBlack GBrowning AIndika NIosifidis CStepien KBassett JUrizar EGadepalli CChurch HJones SfalseGenetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders2025-01-01T00:00:00Z2025 Jul2026-04-08T11:39:57.858Z2026-04-08T02:06:15.015ZS-EPMC12385809