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Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
(2011)
Lysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The ...
The guinea pig as an animal model for Ipomea carnea induced α-mannosidosis
(Elsevier, 2009-12)
The toxic effects of Ipomoea carnea subsp. fistulosa were evaluated in guinea pigs by administration of dry leaves during 45 days. Swainsonine and calystegines B1, B2 and C1 were isolated and quantified. Clinical signs ...
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 ...
Niemann-Pick disease type C symptomatology: an expert-based clinical description
(BioMed Central, 2013)
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely ...
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients
(ACADEMIC PRESS INC ELSEVIER SCIENCESAN DIEGO, 2012)
Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we ...
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)
The Unique Case of The Niemann-Pick Type C Cholesterol Storage Disorder
(2014)
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal cholesterol storage disorder that arises from loss-of-f unction mutations in either the NPCI or NPC2 genes. Both genes code for proteins involved in lysosomal ...