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Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
(Hindawi Publishing Corporation, 2015-05)
Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily ...
Identification of modifier genes/networks of lysosomal biology
(Universidad del Desarrollo. Facultad de Medicina, 2023)
Lysosomal storage diseases (LSDs) are a heterogeneous group of ~70 rare inherited metabolic diseases caused by loss-of-function variants in genes encoding for lysosomal enzymes, their activators, or transport proteins. ...
Insecticide resistance in vector Chagas disease: Evolution, mechanisms and management
(Elsevier Science, 2015-09)
Chagas disease is a chronic parasitic infection restricted to America. The disease is caused by the protozoa Trypanosoma cruzi, which is transmitted to human through the feces of infected triatomine insects. Because no ...
Congenital Cataract in a Blackbelly Lamb
(Universidade Federal do Rio Grande do Sul, 2022)
Implementation of individualised polygenic risk score analysis: a test case of a family of four
Background: Polygenic risk scores (PRS) have been widely applied in research studies, showing how population groups can be stratified into risk categories for many common conditions. As healthcare systems consider applying ...
Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests
(2004)
Background: The mucopolysaccharidosis (MPS) are a group of inherited metabolic disorders resulting from the deficiency of the enzyme responsible for intralysosomal catabolism of glycosaminoglycans (GAGs). GAGs are progressively ...
Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type
(BioMed Central, 2018)
Abstract
Background
Familial partial lipodystrophy of the Dunnigan type is one of the most common inherited lipodystrophies variables. These individuals have important ...
Smoking and susceptibility to thyroid cancer: an inverse association with CYP1A1 allelic variants
(Soc EndocrinologyBristolInglaterra, 2006)
A pharmacogenomic dissection of a Rosuvastatin-induced rhabdomyolysis case evokes the polygenic nature of adverse drug reactions
Rosuvastatin, is a widely-used statin for the treatment of hypercholesterolemia and the prevention of cardiovascular diseases. Although rosuvastatin is well tolerated, about 3/10.000 patients can suffer severe myopathy. ...