- GM2 Gangliosidosis II
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Choi SY, Park JH, Lee JS, Coe CJ, Han SH, Lee EH
- KMID: 2007265
- J Korean Child Neurol Soc.
- 1999 Dec;7(2):244-249.
GM2 gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of beta-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset... -
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- An Anesthetic Experience in a Patient with Tay-Sachs Disease : A case report
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Kim SS, Cho SJ, Jung HS
- KMID: 2236653
- Korean J Anesthesiol.
- 2007 Jan;52(1):107-110.
- doi: 10.4097/kjae.2007.52.1.107
Tay-Sachs Disease (TSD), the most common form of GM(2) gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the alpha-subunit locus... -
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- Urinary enzyme levels after ESWL for renal stone
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Choi HS, Choi SH
- KMID: 2036805
- Korean J Urol.
- 1993 Feb;34(1):103-108.
ESWL is a safe and effective treatment for renal calculi. However, on destruction of the stone, the pressure of shock waves produces renal microdamage. Urinary enzyme testing has been used... -
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- A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis
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Jin HS, Choi JH, Yoo HW
- KMID: 2279500
- Korean J Pediatr.
- 2004 Dec;47(12):1360-1363.
Tay-Sachs disease is an autosomal recessive, neurodegenerative disorder that results from excessive storage of the cell membrane glycolipid, and GM2 ganglioside within the lysosomes of cells. This disease is caused... -
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- Correlation between glomerular filtration rate and urinary N acetyl-beta-D glucosaminidase in children with persistent proteinuria in chronic glomerular disease
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Hong JD, Lim IS
- KMID: 2140729
- Korean J Pediatr.
- 2012 Apr;55(4):136-142.
- doi: 10.3345/kjp.2012.55.4.136
PURPOSE: Urinary excretion of N acetyl-beta-D glucosaminidase (NAG) and beta2-microglobulin (beta2-M) was increased in the presence of proximal tubular damage. Based on these urinary materials, we investigated the ability of... -
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- Functions of Siglecs in Allergic Inflammation
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Lee HH
- KMID: 2051628
- Pediatr Allergy Respir Dis.
- 2006 Sep;16(3):197-205.
Siglecs are sialic acid binding Ig-like lectins, subset of the immunoglobulin superfamily. They are characterized by a homologous N-terminal V-set Ig-like domain and C2 set Ig-like domains. N-terminal domains... -
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- Association of Blood and Bone Lead with a Decrease in Renal Function Indices in Patients with Chronic Kidney Disease
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Yang JO, Kim NS, Lee EY, Hong SY, Todd AC, Lee BK
- KMID: 2142001
- Korean J Nephrol.
- 2011 Nov;30(6):607-613.
PURPOSE: This study assessed the environmental lead exposure in patients with chronic kidney disease (CKD) and the relationship between lead exposure and renal function indices. METHODS: Seventy-one patients with CKD and... -
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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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- Modifiers of TGF-beta1 effector function as novel therapeutic targets of pulmonary fibrosis
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Lee CM, Park JW, Cho WK, Zhou Y, Han B, Yoon PO, Chae J, Elias JA, Lee CG
- KMID: 1792051
- Korean J Intern Med.
- 2014 May;29(3):281-290.
- doi: 10.3904/kjim.2014.29.3.281
Pulmonary fibrosis is a fatal progressive disease with no effective therapy. Transforming growth factor (TGF)-beta1 has long been regarded as a central mediator of tissue fibrosis that involves multiple organs... -
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- S1000A12, Chitotriosidase, and Resolvin D1 as Potential Biomarkers of Familial Mediterranean Fever
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Taylan A, Gurler O, Toprak B, Sisman AR, Yalcin H, Colak A, Sari I
- KMID: 2344147
- J Korean Med Sci.
- 2015 Sep;30(9):1241-1245.
- doi: 10.3346/jkms.2015.30.9.1241
Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic inflammatory attacks. We investigated changes in monocyte-granulocyte derived S10012A and chitotriosidase in both the attack and silent period of... -
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- Role of Urinary N-acetyl-beta-D- glucosaminidase Level in Prediction of Pathological Tubular Lesion and Prognosis in Subclinical Asymptomatic IgA Nephropathy
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Lim HJ, Park GH, Song JH, Lee SW, Cho HC, Lee SW, Han JY, Kim MJ
- KMID: 2079492
- Korean J Nephrol.
- 2005 Jul;24(4):549-558.
PURPOSE: Urinary N-acetyl-beta-D-glucosaminidase (NAG) has been known to reflect the damage of proximal tubular cells in the early stages of renal disease. Recent studies have demonstrated that tubular grade predicted... -
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- Serum Chitotriosidase Activity in Pulmonary Tuberculosis: Response to Treatment and Correlations with Clinical Parameters
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Cakir G, Gumus S, Ucar E, Kaya H, Tozkoparan E, Akgul EO, Karaman B, Deniz O, Kurt I, Ozkan M, Bilgic H
- KMID: 1381682
- Ann Lab Med.
- 2012 May;32(3):184-189.
- doi: 10.3343/alm.2012.32.3.184
BACKGROUND: Chitotriosidase is an accepted marker of macrophage activation. In this study, we investigated serum chitotriosidase levels in pulmonary tuberculosis (PTB). METHODS: Forth-two patients with PTB and 30 healthy subjects were... -
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