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

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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Bibliographic Details
Main Authors: Min-Joon Han, Ida Annunziata, Jason Weesner, Yvan Campos, Muneeb Salie, Carla O'Reilly, Alessandra d'Azzo
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120301379

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