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Utilidad de la biopsia de piel en el diagnóstico de enfermedades neurológicas
(Sociedad Médica de Santiago, 2008)
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. ...
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 ...
Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
(2012)
Niemann-Pick C disease (NPC) is a neuro-visceral lysosomal storage disorder mainly caused by genetic defects in the NPC1 gene. As a result of loss of NPC1 function large quantities of free cholesterol and other lipids ...
Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
(2012)
Niemann-Pick C disease (NPC) is a neuro-visceral lysosomal storage disorder mainly caused by genetic defects in the NPC1 gene. As a result of loss of NPC1 function large quantities of free cholesterol and other lipids ...
Mucopolysaccharidosis type II: skeletal-muscle system involvement
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)