Results 31 to 40 of about 15,263 (240)
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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The connection between Gaucher disease and neurodegenerative diseases
, 2021 A literature review, investigating the commonalities between the rare, but treatable lysosomal storage disorder known as Gaucher disease (Type 1), and common, but terminal age-related neurodegenerative diseases; Alzheimer's disease and Parkinson's ...
Sadie, Bonita Lee-Ann
core
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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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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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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Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease
American Journal of Hematology, EarlyView.ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain +10 more
wiley +1 more source
Gaucher Disease and the Synucleinopathies [PDF]
BioMed Research International, 2006 Several recent observations suggest a connection between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies. Rare patients have been observed who develop both Gaucher disease and parkinsonism. Autopsy studies on these subjects reveal synuclein‐positive Lewy bodies and inclusions.
Hruska, Kathleen S. +2 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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