Liver involvement in patients with Gaucher disease types I and III
نویسندگان
چکیده
منابع مشابه
Pulmonary involvement in Gaucher disease
http://dx.doi.org/10.1590/0100-3984.2016.0070 Leonor Garbin Savarese1, Henrique Simão Trad2, Edwaldo Edner Joviliano1, Valdair Francisco Muglia1, Jorge Elias Junior1 1. Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP-USP), Ribeirão Preto, SP, Brazil. 2. CEDIRP – Central de Diagnóstico Ribeirão Preto, Ribeirão Preto, SP, Brazil. Mailing address: Dra. Leonor Garbin Sava...
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چکیده ندارد.
Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.
Fibroblasts from normal subjects and patients with the three types of Gaucher disease were labeled with [3H]leucine. Glucocerebrosidase antigen was immunoprecipitated using affinity-purified Sepharose-bound antibody. Normal cells initially formed a 60-kDa polypeptide antigen that was gradually replaced by a broad band of antigen averaging 63 kDa. This position corresponds with that of mature fi...
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DNA from 100 unrelated patients, 97 of whom were Jewish and three half-Jewish, was analyzed for 22 mutations known to cause Gaucher disease. All but seven of the alleles were identified as having previously described mutations. Five of the unidentified mutations proved to be a previously undescribed nucleotide substitution in a splice junction (IVS2+1) that causes skipping of exon 2. Thus, only...
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INTRODUCTION Gaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as 'Gaucher cells' or vacuolated lipid-laden reticuloendothelial cells. Long bone involvement is common in Gaucher disease, whereas cran...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2020
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2019.100564