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Fabry disease: Treatment and diagnosis
(John Wiley & Sons Inc, 2009-11)
Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different ...
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
(Elsevier, 2014-08)
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of ...
Targeting defective sphingosine kinase 1 in Niemann–Pick type C disease with an activator mitigates cholesterol accumulation
(American Society for Biochemistry and Molecular Biology, 2020-07)
Niemann–Pick type C (NPC) disease is a lysosomal storage disorder arising from mutations in the cholesterol-trafficking protein NPC1 (95%) or NPC2 (5%). These mutations result in accumulation of low-density lipoprotein-derived ...
Myoclonus and angiokeratomas in adult galactosialidosis
(Wiley-liss, Div John Wiley & Sons Inc, 2011-03)
Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of b- galactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, ...
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 ...
Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
(Sociedad Argentina de Pediatría, 2017-06)
Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose ...
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
(Wiley Blackwell Publishing, Inc, 2019-05)
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays ...
Intoxication by Astragalus garbancillo var. garbancillo in llamas
(American Association of Veterinary Laboratory Diagnosticians, 2020)
Lysosomal storage diseases are inherited and acquired disorders characterized by dysfunctional lysosomes. Intracytoplasmic accumulation of undegraded substrates leads to impaired cellular function and death. Several plant ...
Use of lectin histochemistry to diagnose Sida carpinifolia (Malvaceae) poisoning in sheep
(British Veterinary Assoc, 2005)
Poisoning by Astragalus garbancillo var. garbancillo in Sheep in Northwestern Argentina
(United States Department of Agriculture, 2017-10)
Several toxic plants produce lysosomal storage of glycoproteins and mainly nervous clinical disorders. A disease caused by the consumption of Astragalus garbancillo var. garbancillo in sheep from northwestern Argentina is ...