Lysosomal Storage Disease
Mostrando 25-36 de 134 artigos, teses e dissertações.
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25. Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
Abstract Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFD publis
Genet. Mol. Biol.. Publicado em: 11/10/2018
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26. Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role
Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves th
An. Bras. Dermatol.. Publicado em: 2018-06
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27. Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene
Genet. Mol. Biol.. Publicado em: 06/11/2017
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28. Gaucher disease in a family from Maranhão
Background: Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. Objective: This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. Methods: This was an observational, retrospective and prospective, descript
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-10
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29. Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detec
An. Bras. Dermatol.. Publicado em: 2014-01
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30. Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tan
Clinics. Publicado em: 2013-11
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31. Population analysis of the GLB1 gene in South Brazil
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutat
Genetics and Molecular Biology. Publicado em: 2011
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32. Population analysis of the GLB1 gene in South Brazil
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutat
Publicado em: 2011
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33. Doença do armazenamento lisossomal causada pela ingestão espontânea de Sida carpinifolia em cervos Sambar (Cervus unicolor) cativos no Rio de Janeiro. / Lysosomal storage disease caused by spontaneous ingestion of Sida carpinifolia in captive-Sambar deer (Cervus unicolor) in Rio de Janeiro State, Brazil.
Cases of diseases induced by toxic plants in domestic herbivores are well reported throughout the world and have been studied also in Brazil. However, not much is known about the epidemiological and pathological aspectos of these conditions in free-living wildlife or bred in captivity. The risk for developing the toxicoses in captivity has been increasing, s
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 17/08/2010
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34. Genomic analysis of Brazilian patients with fabry disease
Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous sys
Publicado em: 2010
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35. Doença do armazenamento lisossomal induzida pelo consumo de Sida carpinifolia (Malvaceae) em herbívoros no Rio Grande do Sul / Lysosomal storage disease induced by the consumption of Sida carpinifolia (Malvaceae) in herbivores in Rio Grande do Sul
Descrevem-se os achados epidemiológicos, clínico-patológicos, ultra-estruturais e lectino-histoquímicos de herbívoros intoxicados naturalmente por Sida carpinifolia no Estado do Rio Grande do Sul, Brasil. Este estudo incluiu a elaboração de três artigos. Foi realizado um estudo retrospectivo de intoxicação natural por Sida carpinifolia em bovinos n
Publicado em: 2010
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36. Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and juvenile (JNCL). Several variant subty
Publicado em: 2010