Adults with lysosomal storage diseases in the undiagnosed diseases network

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...

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Bibliographic Details
Main Authors: Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
adult metabolic medicine
Late Onet Tay Sachs
lysosomal storage disorders
MPS I
MPS III
Online Access:https://doi.org/10.1002/mgg3.2013

Internet

https://doi.org/10.1002/mgg3.2013

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