Results 91 to 100 of about 5,175,842 (164)

Cardiopulmonary assessment of patients diagnosed with Gaucher's disease type I. [PDF]

Mol Genet Genomic Med, 2021
Bjelobrk M, Lakocevic M, Damjanovic S, Petakov M, Petrovic M, Bosnic Z, Arena R, Popovic D.   +7 more
europepmc   +1 more source

Saccadic analysis for early identification of neurological involvement in Gaucher’s disease

, 2005
The early identification of a neurological involvement in Gaucher’s Disease (GD) is essential for a correct dosage of the enzymatic therapy. The saccadic eye movement characteristics of 15 patients affected by the non-neurological GD form shown normal ...
ACCARDO, AGOSTINO, PENSIERO S., PERISSUTTI P.   +2 more
core  

Rare Case of Gaucher's Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report. [PDF]

J Orthop Case Rep, 2022
Rahman SH, Srinivasan S, Rai AK, Kumar KGG, Sadar AS, Srivastava SS.   +5 more
europepmc   +1 more source

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

Recent progress in the synthesis of six-membered aminocyclitols (2008-2017) [PDF]

, 2018
Aminocyclitols are of interest as glucosidase inhibitors, as probes for the study of pseudoglycosyltransferases, and as potential therapeutics for the treatment of Gaucher’s disease.
Donaldson, William A.
core  

Design and Synthesis of Potent Quinazolines as Selective β‑Glucocerebrosidase Modulators

, 2016
Gaucher’s disease is a common genetic disease caused by mutations in the β-glucocerebrosidase (GBA1) gene that have been also linked to increased risk of Parkinson’s disease and Lewy body dementia.
Jianbin Zheng (587000), Dimitri Krainc (1406062), Long Chen (315739), Michael Schwake (3104253), Richard B. Silverman (685069)   +4 more
core   +1 more source

Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease

Haematologica, 1998
We present a patient with type 1 Gaucher's disease in whom the spleen size during 34 years of follow-up reached a maximum of 6 cm. below the costal margin, but in 1993 began to decrease spontaneously and presently can no longer be felt by abdominal ...
M Djaldetti, R Straussberg, H Bessler, A Zimran, AM Cohen   +4 more
doaj  

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