Results 21 to 30 of about 5,176,506 (186)
The Turkish Journal of Pediatrics, 1961 Two cases of Gaucher’s disease are reported, one of them being the acute infantile form and the other apparently the adult type. The first case had no evidence of neurologic symptoms and died under two years of age at home.
Vedat Sezer, Mithat Çoruh
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Gaucher’s Disease: A Rare Case, Diagnosed By Fine Needle Aspiration Cytology [PDF]
Journal of Clinical and Diagnostic Research, 2016 Fine Needle Aspiration (FNA) is a simple, inexpensive and innocuous diagnostic tool. It is increasingly accepted in daily medical practice. We report a case of Gaucher’s disease diagnosed by FNA of enlarged spleen in a seven-year-old male presented with
Rashmi Rani Bharti, Bipin Kumar
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Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
International Journal of Molecular Sciences, 2022 Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants with severe neurodegeneration.
Makaila L. Furderer +3 more
openaire +2 more sources
Педиатрическая фармакология, 2013 The article gives data on epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher’s disease in children; it also gives criteria of differential diagnostics with other diseases.
O. S. Gundobina +4 more
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Nature Communications, 2023 GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Pascale Baden +16 more
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[A 56-year-old patient with Gaucher's disease sustaining a pathologic subcapital fracture of the humerus] [PDF]
, 2008 We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait.
Janke, M +3 more
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Neurobiology of Disease, 2019 Bi-allelic mutations in the glucocerebrosidase gene (GBA1) cause Gaucher's disease, the most common human lysosomal storage disease. We previously reported a marked increase in miR-155 transcript levels and early microglial activation in a zebrafish ...
Lisa Watson +9 more
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Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Biomedicines, 2022 We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene.
Valerio Napolioni +13 more
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Педиатрическая фармакология, 2014 The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina +2 more
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Gaucher’s Disease with Rare Genotype- A Case Report [PDF]
National Journal of Laboratory Medicine, 2021 Gaucher’s Disease (GD) is a rare inherited Lysosomal Storage Disorder (LSD) caused by autosomal recessive inheritance of homozygous mutations in the Glucocerebrosidase (GBA) gene encoding the lysosomal enzyme acid β-glucosidase.
Mangesh M Londhe, Tushar V Patil
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