- Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures
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Rim JH, Baik M, Yoon SO, Heo K, Song J
- KMID: 2373520
- Ann Lab Med.
- 2016 Mar;36(2):177-179.
- doi: 10.3343/alm.2016.36.2.177
No abstract available. -
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- Environmental-Genetic Interactions in the Pathogenesis of Parkinson's Disease
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Tsuboi Y
- KMID: 2135002
- Exp Neurobiol.
- 2012 Sep;21(3):123-128.
- doi: 10.5607/en.2012.21.3.123
To date, numerous case-control studies have shown the complexity of the pathogenesis of Parkinson's disease (PD). In terms of genetic factors, several susceptibility genes are known to contribute to the... -
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- A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement
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Kim JB, Yoo HW
- KMID: 2335389
- J Korean Pediatr Soc.
- 1998 Nov;41(11):1590-1595.
Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in... -
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- Parkinsonism Associated with Glucocerebrosidase Mutation
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Sunwoo MK, Kim SM, Lee S, Lee PH
- KMID: 2178974
- J Clin Neurol.
- 2011 Jun;7(2):99-101.
- doi: 10.3988/jcn.2011.7.2.99
BACKGROUND: Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the beta-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor... -
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- Cytologic Features of Gaucher's Disease in the Spleen: A case Report
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Lee HK, Park GS, Kim YS, Lee KY, Kang CS, Shim SI
- KMID: 2226497
- Korean J Cytopathol.
- 1996 Jun;7(1):79-83.
Gaucher's disease is an autosomal recessive disorder resulting fror i mutation at the glucocerebrosidase locus on chromosome 1q21. As a result, glucocerebroside accumulates principally in the phagocytic cells known as... -
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- A case of allogeneic bone marrow transplantation in Gaucher's disease type III and recovery of enzyme activity documented by Fluorescence-Activated Cell Sorter (FACS) analysis
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Kim DK, Kim HS, Yoo SY, Jeong CK, Park JS, Ha MJ, Kim HJ, Kim HC
- KMID: 1601340
- Korean J Med.
- 2001 Aug;61(2):195-200.
Gaucher's disease (GD) is the most common inherited lysosomal storage disease, manifested by generalized accumulation of glucocerebroside in macrophages of the reticuloendothelial system due to a deficient lysosomal beta-glucocerebrosidase (GC).... -
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- A Case of Splenic Embolization Followed by Splenectomy with Preservation of Accessory Spleen in Gaucher's Disease
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Ryu KS, Soh EY, Lim HY, Kim HJ, Kim MW
- KMID: 2206423
- J Korean Surg Soc.
- 1998 Oct;55(4):598-603.
Gaucher's disease is an autosomal recessive genetic disorder of lipid metabolism. A deficiency of beta-glucocerebrosidase causes an accumulation of glucocerebroside in the reticulo-endothelial system and bone marrow. Total or partial... -
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- Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse
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Hong YB, Kim EY, Jung SC
- KMID: 2157830
- J Korean Med Sci.
- 2006 Aug;21(4):733-738.
- doi: 10.3346/jkms.2006.21.4.733
Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of... -
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- Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and alpha-synuclein aggregation
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Bae EJ, Yang NY, Lee C, Lee HJ, Kim S, Sardi SP, Lee SJ
- KMID: 2155418
- Exp Mol Med.
- 2015 Mar;47(3):e153.
- doi: 10.1038/emm.2014.128
Lysosomal dysfunction is a common pathological feature of neurodegenerative diseases. GTP-binding protein type A1 (GBA1) encodes beta-glucocerebrosidase 1 (GCase 1), a lysosomal hydrolase. Homozygous mutations in GBA1 cause Gaucher disease,... -
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- Substrate reduction therapy in three patients with Gaucher disease
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Kim SH, Kang E, Kim YM, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH
- KMID: 2369023
- J Genet Med.
- 2016 Dec;13(2):72-77.
- doi: 10.5734/JGM.2016.13.2.72
PURPOSE: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat (Zavesca®) was approved for the treatment of adults... -
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- Comparative effect of dietary borage oil and safflower oil on anti-proliferation and ceramide metabolism in the epidermis of essential fatty acid deficient guinea pigs
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Lee SR, Cho Y
- KMID: 2209898
- J Nutr Health.
- 2015 Aug;48(4):319-326.
- doi: 10.4163/jnh.2015.48.4.319
PURPOSE: Borage oil (BO) and safflower oil (SO) are efficacious in reversing epidermal hyperproliferation, which is caused by the disruption of epidermal barrier. In this study, we compared the antiproliferative... -
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- Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
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Lee JY, Lee BH, Kim GH, Jung CW, Lee J, Choi JH, Yoo HW
- KMID: 2284321
- Korean J Pediatr.
- 2012 Feb;55(2):48-53.
- doi: 10.3345/kjp.2012.55.2.48
PURPOSE: Gaucher disease is caused by a beta-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in... -
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- A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin(R) in Patients with Type 1 Gaucher Disease
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Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW
- KMID: 2164444
- J Korean Med Sci.
- 2015 Apr;30(4):378-384.
- doi: 10.3346/jkms.2015.30.4.378
Gaucher disease is a lysosomal storage disease for which enzyme replacement therapy has proven to be effective. A switch-over clinical trial was performed to evaluate the efficacy and safety of... -
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