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Adults with lysosomal storage diseases in the undiagnosed diseases network.

Molecular genetics & genomic medicine - 1 Sept 2022

Xiao Changrui, Koziura Mary, Cope Heidi, Spillman Rebecca, Tan Khoon, Hisama Fuki M, Tifft Cynthia J, Toro Camilo

Abstract excerpt

OBJECTIVES: To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN). METHODS: Retrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease. RESULTS: Ten patients were identified. Final diagnoses included late onset Tay...

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PMID: 35848209
DOI: 10.1002/mgg3.2013
PMCID: PMC9482386

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