Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rocío Jiménez-Machado"'
Publikováno v:
Anales de Pediatría, Vol 92, Iss 1, Pp 46-47 (2020)
Externí odkaz:
https://doaj.org/article/7524ba7ebc574ec7bb9243311b2f6a97
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 1, Pp 46-47 (2020)
Externí odkaz:
https://doaj.org/article/adb41555f17a4e6ea9b530eaaa5ba377
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
Publikováno v:
Anales de Pediatría, Vol 92, Iss 1, Pp 46-47 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd5fd092e63104493d96d2cde6df00a8
http://www.sciencedirect.com/science/article/pii/S1695403319300736
http://www.sciencedirect.com/science/article/pii/S1695403319300736
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 1, Pp 46-47 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e109331311a9b2732b1367e898f696
https://hdl.handle.net/10668/13643
https://hdl.handle.net/10668/13643
