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Mucopolysaccharidosis type II: skeletal-muscle system involvement
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina
(Sociedad Americana de errores innatos del metabolismo y pesquisa neonatal, 2013)
Sandhoff Disease (SD) is a lysosomal storage disorder caused by mutations in the HEXB gene. A high incidence
of SD has been described in an Argentine region called ‘‘Valle de Traslasierra.’’ Mutations c.445þ1G>A and ...
Estudo da homeostase lisossômica e caracterização de fibroblastos de pacientes com doença de Fabry em cultura celular
(Universidade Federal de São Paulo (UNIFESP), 2017-01-31)
Fabry disease is one of the lysosomal storage diseases which has a X-linked recessive inheritance. A mutation in GLA gene, causes α-galactosidase A (α-Gal A) deficiency, that with the crescent accumulation of globotriaosylceramide ...
Initial report from the hunter outcome survey
(Nature Publishing Group, 2015)
Chloroquine neuromyopathy
(Dustri-verlag Dr Karl FeistleMunchen-deisenhofenAlemanha, 1996)
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
(2023)
Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders ...