Results 11 to 20 of about 2,332 (156)
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
doaj +2 more sources
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
Exodontia in patient with Gaucher's disease [PDF]
Revista Brasileira de Hematologia e Hemoterapia, 2011 Guacyra Machado Lisboa +1 more
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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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A familial concurrence of schizophrenia and Gaucher's disease
Annals of General Psychiatry, 2007 Background Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings.
Siomos Konstantinos E +2 more
doaj +1 more source
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
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
doaj +1 more source
Nature Communications, 2023 GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Pascale Baden +16 more
doaj +1 more source
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
International Journal of Molecular Sciences, 2022 Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants with severe neurodegeneration.
Makaila L. Furderer +3 more
openaire +2 more sources
Педиатрическая фармакология, 2013 The article gives data on epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher’s disease in children; it also gives criteria of differential diagnostics with other diseases.
O. S. Gundobina +4 more
doaj +1 more source