Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations

Sialidosis is an autosomal recessive lysosomal storage disease, belonging to the glycoproteinoses. The disease is caused by deficiency of the sialic acid-cleaving enzyme, sialidase 1 or neuraminidase 1 (NEU1). Patients with sialidosis are classified based on the age of onset and severity of the clin...

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Detalles Bibliográficos
Autores principales: Han, Min-Joon, Annunziata, Ida, Weesner, Jason, Campos, Yvan, Salie, Muneeb, O’Reilly, Carla, d’Azzo, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446138/
https://www.ncbi.nlm.nih.gov/pubmed/32485644
http://dx.doi.org/10.1016/j.scr.2020.101836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446138/
https://www.ncbi.nlm.nih.gov/pubmed/32485644
http://dx.doi.org/10.1016/j.scr.2020.101836

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