Results 11 to 20 of about 2,195 (134)
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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A familial concurrence of schizophrenia and Gaucher's disease
Annals of General Psychiatry, 2007 Background Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings.
Siomos Konstantinos E +2 more
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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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Spine Surgery and Related Research, 2017 Introduction: Gaucher's disease is a congenital metabolic disorder characterized by the accumulation of glucocerebroside in the reticuloendothelial system. Its clinical manifestations include splenomegaly, osteopenia, and pathological fractures. Cases of
Kenyu Ito +6 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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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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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 is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina +3 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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