{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16(8)"],"submitter":["Urizar E"],"journal":["Genes"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12385809"],"repository":["biostudies-literature"],"pubmed_title":["Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders"],"pmcid":["PMC12385809"],"pubmed_authors":["Farrugia M","Cooper J","McCarron E","Bentley A","Lin S","Senarathne U","Woolfson P","Menendez Lorenzo J","Black G","Browning A","Indika N","Iosifidis C","Stepien K","Bassett J","Urizar E","Gadepalli C","Church H","Jones S"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders","description":null,"dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-04-08T11:39:57.858Z","creation":"2026-04-08T02:06:15.015Z"},"accession":"S-EPMC12385809","cross_references":{}}