Results 21 to 30 of about 10,573,620 (195)
Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease. [PDF]
Mov Disord, 2016 Lysosomal dysfunction has been implicated in multiple diseases, including lysosomal storage disorders such as Gaucher's disease, in which loss‐of‐function mutations in the GBA1 gene encoding the lysosomal hydrolase β‐glucocerebrosidase result in lipid ...
Wong YC, Krainc D.
europepmc +2 more sources
Indian J Endocrinol Metab, 2011 Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early.
Bohra V, Nair V.
europepmc +4 more sources
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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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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Lipids of the spleen in Gaucher's disease
Journal of Lipid Research, 1965 Thin-layer chromatography (TLC) was used to analyze lipids of eight spleens of patients with Gaucher's disease. Four non-Gaucher spleens were also analyzed.
William D. Suomi, Bernard W. Agranoff
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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
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Exodontia in patient with Gaucher's disease [PDF]
Revista Brasileira de Hematologia e Hemoterapia, 2011 Guacyra Machado Lisboa +1 more
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Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
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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Cell, 2011 Summary Parkinson’s disease (PD), an adult neurodegenerative disorder, has been clinically linked to lysosomal storage disorder, Gaucher disease (GD), but the mechanistic connection has been unknown.
Joseph R. Mazzulli +8 more
semanticscholar +1 more source