- Gaucher's Disease: A Report of Two Cases in Homozygous Twins
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Kang JD, Kim KY, Lee YH, Lee KS
- KMID: 2443463
- J Korean Orthop Assoc.
- 1990 Jun;25(3):967-972.
- doi: 10.4055/jkoa.1990.25.3.967
Gaucher's disease is an uncommon metabolic disorder, which was first described by Gaucher in 1882, characterized by accumulation of distinctive Gaucher's cells in the reticuloendothelial system such as spleen, liver,... -
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- Two cases of Gaucher's disease in brothers
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Cho SB, Kim HS, Kang CM
- KMID: 2208563
- J Korean Pediatr Soc.
- 1993 Dec;36(12):1752-1760.
We experienced two cases of Gaucher's disease of adult type in brother aged four years and two years. The patients showed hepatosplenomegaly with anemia and thrombocytopenia. Typical Gaucher cells were... -
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- Two cases of Gaucher disease in brother and sister
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Kim YJ, Cheong KY, Seo JJ, Rhee KS, Chung YH, Koo SH
- KMID: 1691716
- J Korean Pediatr Soc.
- 1991 Aug;34(8):1151-1156.
No abstract available. -
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- Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3
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Heo K, Ye JS, Kim SJ, Kim SE, Kim OK, Cho HK, Kim CH, Kim HJ
- KMID: 1812902
- J Korean Neurol Assoc.
- 1999 May;17(3):420-426.
Gaucher's disease is an autosomal recessive disorder caused by a deficiency of beta-glucosidase (glucocerebrosidase) which results in an accumulation of glucocerebroside in various organs and tissues. Type 3 (juvenile or... -
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- Gaucher's disease: A case report
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Park HW, Park HM, Jahng JS, Shin DE
- KMID: 2011442
- J Korean Orthop Assoc.
- 1993 Aug;28(5):1898-1905.
No abstract available. -
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- A Case of Gaucher's Disease
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Cho HN, Cho MC, Moon HR, Chi JG, Kim HM
- KMID: 1677063
- J Korean Pediatr Soc.
- 1987 Jul;30(7):784-790.
No abstract available. -
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- A Case of Acute(infantile) Gaucher's Disease
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Lim BK, Chung KS, Lee JS, Kim KY, Kim BS, Yun DJ, Kim CJ, Park CI
- KMID: 2208642
- J Korean Pediatr Soc.
- 1981 Oct;24(10):982-990.
A case of Acute infantile form of Gaucher's disease in Korean infant is described. The large cells characteristically found in the bone marrow and liver in Gaucher's disease have been... -
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- Two Cases of Gaucher's Disease in Brothers
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Min JS, Kim IW, Hwang DY, Jeong HG, Park JS, Jun IS, Huh MH
- KMID: 1698897
- J Korean Pediatr Soc.
- 1984 Jun;27(6):628-634.
No abstract available. -
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- Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease
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Lee S, Kim HJ, Jeong SY, Hwang JM
- KMID: 2216461
- J Korean Ophthalmol Soc.
- 2013 Jan;54(1):131-135.
- doi: 10.3341/jkos.2013.54.1.131
PURPOSE: To investigate the ophthalmologic manifestations of Korean patients with Gaucher disease. METHODS: Clinical records of 5 patients who were referred to the pediatric ophthalmology clinic of Seoul National University Bundang... -
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- The Clinical Characteristics and Gene Analysis of Korean Gaucher Disease with Central Nervous System Involvement
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Choi HS, Kim SH, Ida H, Kim HJ
- KMID: 2207552
- J Korean Pediatr Soc.
- 2000 May;43(5):611-618.
PURPOSE: We performed the study to determine the clinical characteristics and natural history of Gaucher disease with CNS involvement in Korea as well as to determine whether gene analysis would... -
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- Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease: implications for neuronal loss in Gaucher disease
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Kim EY, Hong YB, Go SH, Lee B, Jung SC
- KMID: 1110118
- Exp Mol Med.
- 2006 Aug;38(4):348-356.
Gaucher disease is a glycosphingolipid storage disease caused by deficiency of glucocerebrosidase, resulting in the accumulation of glucosylceramide in lysosomes. The neuronopathic forms of this disease are associated with neuronal... -
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- A Case of Gaucher's Disease
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Kim JS, Kim SJ, Suh HJ, Kang IJ, Chung SY, Park JB, Moon SK, Kim SY
- KMID: 1946059
- J Korean Pediatr Soc.
- 1986 Sep;29(9):100-106.
No abstract available. -
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- A case of Gaucher's Disease Diagnosed by beta-Glucosidase Enzyme Deficiency
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Park HG, Lee YS, Yang CH, Hong CH, Lee SK, Song KS, Jeong HJ
- KMID: 1683304
- J Korean Pediatr Soc.
- 1990 Apr;33(4):514-521.
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- A Case of Gaucher'S Disease In Identical Twins
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Chung WY, Kim KT, Lee HK, Lee SY, Lee EY, Park YS, Kim YS, Kim SH
- KMID: 1699158
- J Korean Pediatr Soc.
- 1983 Jun;26(6):598-605.
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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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- Sphingolipidoses
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Yoo HW
- KMID: 2168069
- Hanyang Med Rev.
- 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is... -
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- 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
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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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- 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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- 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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