Results 21 to 30 of about 12,191 (186)
Gaucher disease and the synucleinopathies: refining the relationship
Orphanet Journal of Rare Diseases, 2012 Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
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Gaucher Disease Involving Virchow’s Lymph Node: a Case Report
Folia Medica, 2018 Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A
Zinovkin Dmitry A. +4 more
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PLoS ONE, 2023 BackgroundGaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing ...
Vernon Johan Louw +2 more
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Perinatal-lethal Gaucher disease presenting as hydrops fetalis
The Pan African Medical Journal, 2015 Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida +8 more
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Journal of Medical Case Reports, 2018 Background Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase.
Meng Yang
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Arthritis Care &Research, EarlyView.Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule +4 more
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Journal of Clinical and Experimental Hepatology, 2014 Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms.
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Unexpected macrophage-independent dyserythropoiesis in Gaucher disease
Haematologica, 2016 Gaucher disease is a rare inherited disease caused by a deficiency in glucocerebrosidase leading to lipid accumulation in cells of mononuclear-macrophage lineage known as Gaucher cells.
Nelly Reihani +9 more
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Ferritin as a Nanoparticle Scaffold for Plant‐Produced Next‐Generation Subunit Vaccines
Biotechnology and Bioengineering, EarlyView.ABSTRACT Protein nanoparticles offer an innovative approach to next‐generation subunit vaccine development by displaying antigenic sequences on the nanoparticle surface. Compared to traditional subunit vaccines, protein nanoparticle vaccines often show improved interaction with the immune system due to their particulate size and repetitive epitope ...
Jordan T. VanderBurgt +3 more
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Unusual presentation of adult Gaucher′s disease: A long and difficult road to diagnosis
Indian Journal of Endocrinology and Metabolism, 2011 Gaucher′s disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher′s disease patient with atypical presentation.
Vishakha V Jain, Samir Yelwatkar
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