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Fabry disease: Treatment and diagnosis
(John Wiley & Sons Inc, 2009-11)
Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different ...
Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
(Sociedad Argentina de Pediatría, 2017-06)
Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose ...
Targeting defective sphingosine kinase 1 in Niemann–Pick type C disease with an activator mitigates cholesterol accumulation
(American Society for Biochemistry and Molecular Biology, 2020-07)
Niemann–Pick type C (NPC) disease is a lysosomal storage disorder arising from mutations in the cholesterol-trafficking protein NPC1 (95%) or NPC2 (5%). These mutations result in accumulation of low-density lipoprotein-derived ...
Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease
(Public Library of Science, 2019-05-31)
Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis. Significant degrees of amelioration occur in patients upon ...
Detection of the E8SJM mutation in the LIPA gene, by real-time PCR, for the investigation of cholesteryl ester storage diseaseDetección de la mutación E8SJM en el gen LIPA, por PCR en tiempo real, para la investigación de la enfermedad por almacenamiento de ésteres de colesterol
(Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana, 2018)