Results 11 to 20 of about 15,263 (240)

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

Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms

, 2021
6 p.Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases.
Mistry, Pramod K., Lukina, Elena, Solano, María Helena, Rosenbaum, Hanna, Watman, Nora Patricia, Villarrubia, Jesús, Mach Pascual, Sara, Massenkeil, Gero, Özsan, Hayri, Spigelman, Zachary, Cappellini, María Domenica   +10 more
core   +2 more sources

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

Gaucher's disease

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
openaire   +3 more sources

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

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Duchen, Michael R., Gegg, ME, Osellame, LD, Gegg, Matthew E., Osellame, Laura D., Richard-Londt, A, Hargreaves, Iain P., Brandner, Sebastian, Brandner, S, Richard-Londt, Angela, Waddington, Simon N., Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Rahim, Ahad A., Duchen, MR, Schapira, AH, Schapira, Anthony H.V.   +18 more
core   +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