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Curated incidence of lysosomal storage diseases from the Taiwan Biobank

Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are inherited in an autosomal or X-linked recessive manner. As LSDs are rare, their true incidence in Taiwan remains unknown. In this study, we used high-cov...

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Detalles Bibliográficos
Autores principales: Tsai, Meng-Ju Melody, Hung, Miao-Zi, Lin, Yi-Lin, Lee, Ni-Chung, Chien, Yin-Hsiu, Hwu, Wuh-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10517920/
https://www.ncbi.nlm.nih.gov/pubmed/37741878
http://dx.doi.org/10.1038/s41525-023-00372-x