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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Corrective surgery for kyphosis in a case of Gaucher's disease without history of vertebral compression fractures [PDF]
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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New correlations between ocular parameters and disease severity in Spanish patients with Gaucher's disease Type I. [PDF]
PLoS ONE, 2021 BackgroundGaucher'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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Symmetric, bilateral upper and lower extremity lucent lesions in a patient with Gaucher's disease on enzyme replacement therapy [PDF]
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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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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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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Cardiopulmonary assessment of patients diagnosed with Gaucher’s disease type I [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Understanding the basis of the phenotypic variation in Gaucher's disease (GD) has proven to be challenging for efficient treatment. The current study examined cardiopulmonary characteristics of patients with GD type 1. Methods Twenty Caucasian
Marija Bjelobrk +7 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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A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher′s Disease [PDF]
Chinese Medical Journal, 2016 Background: Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages. Many mutations have been reported to be
Lin-Yu Liu +7 more
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Gaucher's disease: report of 11 cases with review of literature [PDF]
The Pan African Medical Journal, 2015 Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to
Laila Essabar +5 more
doaj +2 more sources