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pro vyhledávání: '"Daniel Bardán-Rebollar"'
Autor:
Enrique Rodríguez-García, María Isabel Pérez-Cabeza, Esther Eugenia Moreno-Medinilla, Fátima Borrás, Rocío Jiménez-Machado, Julia Escudero, Isaac Ferrer-López, Carmen Benito, Isabel Castro-Vega, Daniel Bardán-Rebollar, Raquel Yahyaoui
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 23:102-104
Sialidosis is a rare lysosomal storage disease caused by an α-N-acetyl neuraminidase-1 deficiency due to mutations of the NEU1 gene (6p21). Disease severity varies among patients and is linked to the level of residual neuraminidase activity in vivo.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d300f0cd10f3c3651e95631291ba9f
https://doi.org/10.1016/j.jaapos.2018.08.008
https://doi.org/10.1016/j.jaapos.2018.08.008
