Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Rubigilda C. Paragison"'
Autor:
Kenjiro Gondo, Katsumi Higaki, Eiji Nanba, Rubigilda C. Paragison, Naoko Matsumoto, Johji Kukita
Publikováno v:
Brain and Development. 30:595-598
Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of lysosomal beta-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile typ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ddf8b02ac3fdcc3e646a61deac61d33
https://doi.org/10.1016/j.braindev.2008.01.012
https://doi.org/10.1016/j.braindev.2008.01.012
