Results 1 to 10 of about 12,191 (186)

a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy

PLoS ONE, 2023
It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson’s disease.
Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria M. J. Ferraz, Aristotelis Xenakis, Johannes M. F. G. Aerts, Leonidas Stefanis, Helen Michelakakis   +7 more
doaj   +2 more sources

Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey

Orphanet Journal of Rare Diseases, 2023
Background Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substance, in the ...
Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman, Jessica Pacey   +3 more
doaj   +1 more source

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease. [PDF]

PLoS ONE, 2015
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement.
Hila Zigdon, Alon Savidor, Yishai Levin, Anna Meshcheriakova, Raphael Schiffmann, Anthony H Futerman   +5 more
doaj   +1 more source

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, Abdulkareem AlMomen, Ahmad M Tarawah, Ahmed M AlSuliman, Hussain H Al Saeed, Mahasen Saleh, Marwan ElBagoury, Ohoud F Kashari, Omar M Hussein   +8 more
doaj   +1 more source

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, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai   +4 more
doaj   +1 more source

A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy

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, Toshinari Fujiwara, Hideyuki Yoshizumi, Hiroyuki Ida, Kazuya Shimoda   +4 more
doaj   +1 more source

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, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones, Erich Schneider   +9 more
doaj   +1 more source

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, TAO Xiaojuan, ZHANG Ningning, HUO Aihua, HU Di, LYU Yanqiu, ZHANG Yonghong, PENG Yun   +7 more
doaj   +1 more source

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, S V Model, O M Averbukh, A M Gavrilov, G M Galstyan, E A Lukina   +5 more
doaj   +1 more source

Lung Involvement in Gaucher Disease

Case Reports in Clinical Practice, 2020
Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome.
Mahnaz Pejman Sani, Keivan Gohari Moghadam, Mahbube Ebrahimpur   +2 more
doaj   +1 more source