Buscar
Mostrando ítems 1-10 de 39
Genistein activates transcription factor EB and corrects Niemann–Pick C phenotype
(MDPI, 2021)
Niemann-Pick type C disease (NPCD) is a lysosomal storage disease (LSD) characterized by abnormal cholesterol accumulation in lysosomes, impaired autophagy flux, and lysosomal dysfunction. The activation of transcription ...
Utilidad de la biopsia de piel en el diagnóstico de enfermedades neurológicas
(Sociedad Médica de Santiago, 2008)
Lysosomal Storage Disease Caused by Sida carpinifolia Poisoning in Goats
(American College of Veterinary Pathologists, 2000-03)
A neurologic disease characterized by ataxia, hypermetria, hyperesthesia, and muscle tremors of the head and neck was observed for 2 years in a flock of 28 Anglo-Nubian and Saanen goats on a farm with 5 ha of pasture. Six ...
Mucopolysaccharidosis type II: skeletal-muscle system involvement
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Contribution of inflammatory pathways to Fabry disease pathogenesis
(Academic Press Inc Elsevier Science, 2017-11)
Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates ...
Fabry Disease in Hemodialysis Patients in Southern Brazil: Prevalence Study and Clinical Report
(INFORMA HEALTHCARE, 2008)
Background. Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of -Galactosidase A (-Gal A). Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), ...
Gaucher disease: a case studyEnfermedad de Gaucher: estudio de caso
(Facultad de Medicina, 2017)
Non-immune Hydrops Fetalis: A Prospective Study of 53 Cases
(Wiley-blackwellHobokenEUA, 2013)