Results 11 to 20 of about 5,175,842 (164)
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
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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
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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
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EFFECTIVENESS AND SAFETY OF VELAGLUCERASE ALFA IN TREATMENT OF GAUCHER DISEASE TYPE 1 (ACCORDING TO INTERNATIONAL STUDIES) [PDF]
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
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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 mutations disrupt the lysosome and now the mitochondria
Nature Communications, 2023 β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy ...
Andrés D. Klein, Tiago Fleming Outeiro
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in silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher’s disease using multiple software tools. [PDF]
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
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PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]
Romanian Journal of Pediatrics, 2009 This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
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