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Indian Journal of Endocrinology and Metabolism, 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.
Vijay Bohra, Velu Nair
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Management algorithms for gaucher disease
Journal of Applied Hematology, 2020 INTRODUCTION: Gaucher disease is a challenging disease because of the progressive nature and multiple systems that are involved. Gaucher disease is underdiagnosed in Saudi Arabia. It is sometimes misdiagnosed with other hematological diseases.
Ayman Alhejazi +8 more
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Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]
Journal of Clinical and Diagnostic Research, 2017 Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini +4 more
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A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease [PDF]
, 2016 Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Acosta, Walter +22 more
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Case Reports in Gastroenterology, 2021 Gaucher disease is a rare genetic disorder caused by the deficiency of acid β-glucosidase to effectively catalyze the degradation of glucosylceramide to glucose and ceramide.
Naoto Komada +4 more
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International Journal of Molecular Sciences, 2020 The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact clinical outcomes.
S. Revel-Vilk, M. Fuller, A. Zimran
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Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?
Diseases, 2023 We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic
Veroniki Komninaka +7 more
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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease
Orphanet Journal of Rare Diseases, 2020 Background Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy.
Aimee Donald +9 more
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Progressive pulmonary hypertension in a patient with type 1 Gaucher disease [PDF]
Терапевтический архив, 2017 Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the ...
R V Ponomarev +5 more
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Quantitative Imaging Study of Liver and Spleen Lesions in Patients with Gaucher Disease
罕见病研究, 2022 Objective Quantitative imaging evaluation was performed on the liver and spleen system lesions of patients with Gaucher disease after treatment. in order to deepen the understanding of Gaucher disease.
LI Di +7 more
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