Adults with lysosomal storage diseases in the undiagnosed diseases network
Abstract 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 fina...
Main Authors: | Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-09-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2013 |
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