1.A Case of Gaucher's Disease.
Hyo Nam CHO ; Myung Cheol CHO ; Hyung Ro MOON ; Je Geun CHI ; Hyo Min KIM
Journal of the Korean Pediatric Society 1987;30(7):784-790
No abstract available.
Gaucher Disease*
2.Gaucher's disease: A case report.
Hui Wan PARK ; Hyeong Mun PARK ; Jun Seop JAHNG ; Dong Eun SHIN
The Journal of the Korean Orthopaedic Association 1993;28(5):1898-1905
No abstract available.
Gaucher Disease*
3.Therapeutic potential of resveratrol for the treatment of type III Gaucher disease
Neurology Asia 2015;20(1):43-48
Gaucher disease is the most common lysosomal storage disorder. Resveratrol is a natural polyphenol
that possesses a wide range of beneficial effects, including anti-inflammatory, anti-oxidant, and
neuroprotective activities. The aim of this study was to determine if resveratrol has a therapeutic
effect on primary fibroblast cells derived from a patient with type III Gaucher disease. 3-(4,5-
Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assays were performed to determine
the effect of resveratrol on cell survival. The expression levels of apoptosis-inducing factor (AIF),
Bcl-2-associated X protein (Bax), caspase-3, acetyl-coenzyme A acetyltransferase 1 (ACAT1), E3-
binding protein (E3BP), and citrate synthase (CS) were evaluated by western blotting to characterize
the effect of resveratrol treatment on Gaucher disease cells. Thin-layer chromatography (TLC) was
carried out to measure changes in glucosylceramide levels in resveratrol-treated patient cells. Resveratrol
increased the viability of patient cells compared to that of untreated control cells. Resveratrol treatment
dose-dependently decreased AIF, Bax, and cleaved caspase-3 levels, whereas ACAT1, E3BP, and CS
expression dose-dependently increased. TLC analysis showed reduced levels of glucosylceramides
in resveratrol-treated patient cells. These findings demonstrate that resveratrol can relieve cellular
stress due to glucosylceramide accumulation, and suggest that it should be studied further as a new
therapeutic approach for the treatment of Gaucher disease.
Gaucher Disease
4.Cholelithiasis in a Filipino child with chronic neuronopathic gaucher disease: A case report
Mary Ann R. Abacan ; Mary Anne D. Chiong
Acta Medica Philippina 2017;51(3):245-247
Gaucher disease is the most common of the lysosomal storage diseases caused by a defect in the lysosomal enzyme βglucocererbrosidase resulting in multi-organ involvement. The presence of cholelithiasis has been rarely observed among patients with non-neuronopathic type of Gaucher disease and the exact pathophysiology is still unknown. We report a Filipino child with chronic neuronopathic Gaucher Disease noted to have cholelithiasis on routine whole abdominal ultrasonography as part of the regular monitoring of the disease.
Gaucher Disease
;
Cholelithiasis
;
Gaucher Disease
5.Two Cases of Gaucher's Disease in Brothers.
Jeong Sick MIN ; Il Whan KIM ; Dae Young HWANG ; Hyun Gi JEONG ; Jae Sun PARK ; In Sun JUN ; Man Ha HUH
Journal of the Korean Pediatric Society 1984;27(6):628-634
No abstract available.
Gaucher Disease*
;
Humans
;
Siblings*
7.A case of Gaucher's Disease Diagnosed by beta-Glucosidase Enzyme Deficiency.
Hwan Gyn PARK ; Yil Sub LEE ; Chang Hyun YANG ; Chang Ho HONG ; Sung Kyu LEE ; Kyung Soon SONG ; Hyeon Joo JEONG
Journal of the Korean Pediatric Society 1990;33(4):514-521
No abstract available.
beta-Glucosidase*
;
Gaucher Disease*
8.Recent research progress in Gaucher disease.
Yan-long DUAN ; Yong-hong ZHANG
Chinese Journal of Pediatrics 2009;47(12):953-955
9.Clinicopathological study of Gaucher disease.
Yan Xia WANG ; Mei Chen WEI ; Shou Jing YANG
Chinese Journal of Pathology 2022;51(11):1158-1160