Results 71 to 80 of about 2,195 (134)

Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher's disease using diffusion tensor imaging. [PDF]

Abdom Radiol (NY), 2022
Alnaghy E, Razek AA, Abdelhalim E.
europepmc   +1 more source

Gaucher’s Disease – current state of knowledge and future perspectives?

Journal of Education, Health and Sport
Introduction 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, Julia Krasnoborska, Sylwia Samojedny, Maciej Superson, Katarzyna Szmyt, Kamil Walczak, Klaudia Wilk-Trytko, Łukasz Zarębski   +7 more
doaj   +1 more source

Impact of Gba2 on neuronopathic Gaucher's disease and α-synuclein accumulation in medaka (Oryzias latipes). [PDF]

Mol Brain, 2021
Nakanishi E, Uemura N, Akiyama H, Kinoshita M, Masanori S, Taruno Y, Yamakado H, Matsuzawa SI, Takeda S, Hirabayashi Y, Takahashi R.   +10 more
europepmc   +1 more source

Macitentan in the treatment of pulmonary hypertension in Gaucher‚s disease. [PDF]

Anatol J Cardiol, 2020
Taylan G, Aktoz M, Celik M, Yılmaztepe M.   +3 more
europepmc   +1 more source

Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease

Translational Neurodegeneration
Parkinson’s disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk.
Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo   +3 more
doaj   +1 more source

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. [PDF]

Orphanet J Rare Dis, 2020
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P.   +9 more
europepmc   +1 more source

Beta Thalassemia Major with Gaucher's Disease: A Rare Entity. [PDF]

Cureus, 2019
Bai N, Nasir S, Ahmed J, Malik F, Bin Arif T.   +4 more
europepmc   +1 more source

Navigating gynaecological challenges in Gaucher's disease: insights from five European countries. [PDF]

Ther Adv Rare Dis
Dominik L, Anđela KO, Jasenka W, Nadira D.   +3 more
europepmc   +1 more source

Gaucher's Disease in an Adult Male: A Case Report of a Rare Mutation. [PDF]

Cureus
Bhati AA, Shah SR, Dalal YD, Shah NM, Patel MN.   +4 more
europepmc   +1 more source

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease. [PDF]

J Orthop Surg Res, 2019
Roca-Espiau M, Andrade-Campos M, Cebolla JJ, López de Frutos L, Medrano-Engay B, López-Royo MP, Giraldo P.   +6 more
europepmc   +1 more source