Adults with lysosomal storage diseases in the undiagnosed diseases network

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 diagn...

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Detalles Bibliográficos
Autores principales: Xiao, Changrui, Koziura, Mary, Cope, Heidi, Spillman, Rebecca, Tan, Khoon, Hisama, Fuki M., Tifft, Cynthia J., Toro, Camilo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482386/
https://www.ncbi.nlm.nih.gov/pubmed/35848209
http://dx.doi.org/10.1002/mgg3.2013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482386/
https://www.ncbi.nlm.nih.gov/pubmed/35848209
http://dx.doi.org/10.1002/mgg3.2013

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