New correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I [PDF]
PLoS ONE, 2021 Background Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity.
Olivia Esteban +6 more
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Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease. [PDF]
PLoS ONE, 2015 Gaucher's disease is caused by defects in acid β-glucosidase 1 (GBA1) and has been also proposed as an inflammatory disease. GBA1 cleaves glucosylceramide to form ceramide, an established bioactive lipid, and defects in GBA1 lead to aberrant accumulation
Kazuyuki Kitatani +8 more
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Patient-reported outcomes in Gaucher’s disease: a systematic review [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating ...
Junchao Feng +4 more
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Different and unusual presentation of Gaucher’s disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report [PDF]
Journal of Medical Case ReportsBackground Gaucher is an autosomal recessive inherited lysosomal storage disorder. The incidence of this disease is rare with a global estimate of around 1 in 57,000 to 1 in 75,000. Gaucher’s disease is caused by a mutation in the glucocerebrosidase gene.
Bijan Keikhaei, Ladan Mafakher
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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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Addressing kyphoscoliosis in Gaucher’s disease: a multidisciplinary approach to a rare case [PDF]
BMC Musculoskeletal DisordersBackground Gaucher’s disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA gene, leading to glucocerebrosidase deficiency and the accumulation of glucosyl ceramide in the bone marrow, which can result in skeletal ...
Jianwei Guo +5 more
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A novel allosteric GCase modulator prevents Tau accumulation in GBA1 WT and GBA1 L444P/L444P cellular models [PDF]
Scientific ReportsA slow decline in the autophagy-lysosomal pathway is a hallmark of the normal aging brain. Yet, an acceleration of this cellular function may propel neurodegenerative events. In fact, mutations in genes associated with the autophagy-lysosomal pathway can
Matteo Ciccaldo +13 more
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Radiology Case Reports, 2020 We report a case of a 6-year old girl with known type 3 Gaucher's Disease on enzyme replacement therapy who developed bilateral, symmetric osteolytic lesions in her humeri and femurs.
Andrew S. Kuhn, MD +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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Morbus gaucher: A report of two cases [PDF]
Vojnosanitetski Pregled, 2006 Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
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