Results 11 to 20 of about 2,490 (187)
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 +5 more sources
Педиатрическая фармакология, 2014 The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina +2 more
doaj +2 more sources
Педиатрическая фармакология, 2014 The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina +3 more
doaj +3 more sources
Gaucher’s disease: orphan disease in pediatric practice
Лечащий Врач, 2021 Approaches to diagnostics and treatment of Gaucher’s disease in children were considered. A clinical case is given.
T. A. Bokova
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Gaucher’s Disease (the Modern View on the Problem)
Gastroenterologìa, 2015 The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
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Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic
Journal of Contemporary Medicine, 2020 Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
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Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism [PDF]
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 +2 more sources
Frontiers in Genetics, 2014 Gaucher’s disease is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalysis the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose.
Madhumathi eManickam +4 more
doaj +2 more sources
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
Gaucher’s Disease – current state of knowledge and future perspectives?
Journal of Education, Health and SportIntroduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in
Katarzyna Szymańska +7 more
doaj +3 more sources