Now showing items 1-10 of 100
Pompe disease: Clinical perspectives
(Dove Medical, 2017)
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
Genistein activates transcription factor EB and corrects Niemann–Pick C phenotype
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 ...