Results 21 to 30 of about 5,175,842 (164)
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
doaj +1 more source
Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3. [PDF]
Front Neurol, 2017 BackgroundChronic neuronopathic Gaucher’s disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3.ObjectiveTo characterize the saccades in ...
Blume J +4 more
europepmc +2 more sources
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
doaj +1 more source
The Turkish Journal of Pediatrics, 1961 Two cases of Gaucher’s disease are reported, one of them being the acute infantile form and the other apparently the adult type. The first case had no evidence of neurologic symptoms and died under two years of age at home.
Vedat Sezer, Mithat Çoruh
doaj +1 more source
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Biomedicines, 2022 We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene.
Valerio Napolioni +13 more
doaj +1 more source
Neurobiology of Disease, 2019 Bi-allelic mutations in the glucocerebrosidase gene (GBA1) cause Gaucher's disease, the most common human lysosomal storage disease. We previously reported a marked increase in miR-155 transcript levels and early microglial activation in a zebrafish ...
Lisa Watson +9 more
doaj +1 more source
Characterizing a Gaucher’s Disease Model for the Evaluation of Novel Exosome-Based Enzyme Replacement Therapy [PDF]
, 2020 Gaucher’s disease is a rare genetic lysosomal storage disorder. People suffering from Gaucher’s disease do not have functional beta-glucocerebrosidase (GBA), which results in toxic build-up of undegraded substrates within the cell.
Brown, Annie
core +1 more source
The Practicality of Family screening for Gaucher disease among first- and second-degree relatives: an effective diagnostic approach in high consanguinity [PDF]
Journal of Epigenetics, 2023 Gaucher Disease occurs more frequently in the offspring of familial marriages. With a wide variety of presentations, the long list of tests required to confirm GD in addition to those needed to rule out others puts a heavy financial burden on the ...
Majid Naderi +3 more
doaj +1 more source
Gaucher's disease: Report of a case
Siriraj Medical Journal, 2023 The first adult case of Gaucher's disease in Thailand was reported. The diagnosis was based on hepatosplenomegaly and Gaucher's cells in the bone marrow without any evidence of leukaemia.
Vicharn Panich +2 more
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