- A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
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Yeo Y, Choi EY, Yoon HJ, Jung S, Kim D, Lee S, Joo KB, Jun JB
- KMID: 2222960
- J Rheum Dis.
- 2014 Aug;21(4):192-195.
- doi: 10.4078/jrd.2014.21.4.192
Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard... -
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- A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation
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Kwon BW, Hyun KH, Han JH, Kim SM, Lee SS, Choo YK, Lee EK
- KMID: 2253208
- Korean J Nephrol.
- 2009 Jan;28(1):58-62.
Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The... -
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- A Case of Allopurinol Hypersensitivity Syndrome
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Kim BJ, Kim MN, Ro BI, Song KY
- KMID: 2303041
- Korean J Dermatol.
- 2003 Feb;41(2):251-254.
Allopurinol(4-hydroxypyrazolo[3, 4-d]pyrimidine) is an analog of hypoxanthine, widely used in the treatment of gout and in some patients develop the allopurinol hypersensitivity syndrome. Allopurinol hypersensitivity syndrome is characterized by multiple... -
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- Three Cases of Lesch-Nyhan Syndrome: Cases report
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Shin YB, Han JE, Kim KM, Yang SH, Im DS
- KMID: 2178522
- J Korean Acad Rehabil Med.
- 2005 Dec;29(6):673-677.
Lesch-Nyhan syndrome is a rare X-linked recessive metabolic disorder characterized by developmental delay, hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive self-injurious behavior. This disorder results from a complete deficiency of... -
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- Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome
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Kim KJ, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara
- KMID: 1081056
- J Korean Med Sci.
- 1997 Aug;12(4):332-339.
- doi: 10.3346/jkms.1997.12.4.332
Lesch-Nyhan syndrome is caused by the complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT). By the analysis of genomic DNA and mRNA using the polymerase chain reaction (PCR) technique coupled... -
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- Comparison of Hypoxanthine-Guanine Phosphoribosyltransferase Activity between Normal and Gout Patients
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Lee CH, Ahn HJ, Rhee JH, Park SJ, Yoon BY, Han SH, Lee BR, Lee YW
- KMID: 2025587
- J Korean Rheum Assoc.
- 2003 Jun;10(2):126-131.
OBJECTIVE: It has been known that the enzyme deficiency associated with uric acid production is the minor cause of gout. The purpose of this study is to evaluate the role... -
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- Effect of Oxygen Radicals on Cultured Cerebral Neurons of Neonatal Mouse
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Oh YK, Park ST
- KMID: 1554073
- J Korean Pediatr Soc.
- 1997 Jun;40(6):786-793.
PURPOSE: In order to elucidate the neurotoxic mechanism of oxygen radicals which are pathological factor of ischemia, we evaluated the oxidant-induced neurotoxicity and the neuroprotective effect of antioxidant on cultured... -
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- The Effect of Low Concentrated Hypoxanthine and FSH in 10% FBS Supplemented Medium on Immature Oocyte in vitro Maturatio
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Han HD, Lim CK, Youm HS, Hyon NN, Lee JH, Hong M
- KMID: 1473568
- Korean J Reprod Med.
- 2009 Sep;36(3):175-186.
OBJECTIVE: We examined the effect of different culture media on oocyte maturation. METHODS: Four groups of media, (1) 0.3% BSA mBASAL-XI-HTF, (2) 0.3% BSA mBASAL-XI-HTF with FSH, (3) 10% FBS mBASAL-XI-HTF... -
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- Effect of Iron-chelator on the Neurotoxicity Induced by Oxygen Radicals
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Park ST
- KMID: 2376333
- Korean J Phys Anthropol.
- 1995 Dec;8(2):113-121.
- doi: 10.11637/kjpa.1995.8.2.113
In order to elucidate the neurotoxicity of oxygen radicals, neurotoxic effect was investigated after cultured mouse spinal sensory ganglionic cells were exposed to oxygen radicals which were generated enzymatically by... -
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- A Case of Lesch-Nyhan Syndrome
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Kim JS, Lee JS, Noh HY, Kim BJ, Woo YJ, Park JM, Kim MG, Kim GH, Yoo HW
- KMID: 2335733
- J Korean Pediatr Soc.
- 2003 May;46(5):505-509.
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme,... -
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- Lesch-Nyhan syndrome and purine and pyrimidine metabolism didorders
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Kim SZ
- KMID: 2168076
- Hanyang Med Rev.
- 2005 Aug;25(3):92-101.
Purine & pyrimidine nucleotides are basic constituents of cellular DNA and RNA polynucleotides. Their function includes regulation of cell metabolism and function, energy conservation and transport and formation of coenzymes... -
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- Analysis of nucleotides and their derivatives in renal tissue of rat during ischemia by HPLC
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Kim SY, Kim JH
- KMID: 2377607
- Yeungnam Univ J Med.
- 1992 Jun;9(1):90-101.
- doi: 10.12701/yujm.1992.9.1.90
In rat kidney, the changes in concentrations of nucleotides and their derivatives during ischemia induced by renal artery ligation was measured quantitatively with high performance liquid chromatography (HPLC). After the ligation... -
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- Effect of Allopurinol on Methylmercuric Chloride in Cultured O1igodendrocytes
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Park ST, Mun YJ, Oh JM, Kim JJ, Choi MK, Shim JH, Lim KT, Chung YT
- KMID: 2376319
- Korean J Phys Anthropol.
- 1996 Dec;9(2):189-195.
- doi: 10.11637/kjpa.1996.9.2.189
In order to examine the neurotoxic mechanism of oxygen radicals on cultured bovine oligodendrocytes, cytoxic effect of oxygen radicals was examined when cultures were treated with various concentrations of xanthine... -
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- Effects of Oxygen Free Radicals on KATP Channel Activity in Mouse Cardiac Myocytes
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Park HW, Ju JM, Park OY, Park WS, Kim JH, Kim W, Ahn YK, Jeong MH, Park JC, Kim JH, Kang JC, Cho JG
- KMID: 2227245
- Korean Circ J.
- 2003 Dec;33(12):1140-1146.
- doi: 10.4070/kcj.2003.33.12.1140
BACKGROUND AND OBJECTIVE: Oxygen-derived free radicals (OFRs), produced as myocardium is reperfused after ischemic injury, contribute to reversible and irreversible cellular injury. KATP channels, activated by ischemia, have been reported... -
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- Identification of Hypoxanthine and Phosphoenolpyruvic Acid as Serum Markers of Chemoradiotherapy Response in Locally Advanced Rectal Cancer
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Kim K, Yeo SG, Yoo BC
- KMID: 2380393
- Cancer Res Treat.
- 2015 Jan;47(1):78-89.
- doi: 10.4143/crt.2013.127
PURPOSE: Patients show variable responses to chemoradiotherapy (CRT), which is generally administered before surgery for locally advanced rectal cancer (LARC). The aim of this study was to identify molecular markers... -
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- Effects of Melatonin on the Meiotic Maturation of Mouse Oocytes in vitro
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Ahn HJ, Bae IH
- KMID: 2085162
- Korean J Fertil Steril.
- 2004 Sep;31(3):155-168.
OBJECTIVE: Melatonin, which is secreted by pineal gland play an important role in the regulation of ovarian function via seasonal rhythm and sleep in most mammals. It also has a... -
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- A Study on Apoptosis of HGPRT- Mouse Myeloma Cell Induced by Aminopterin, a de novo Pathway Blocking Agent
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Choi Y, Chung YH
- KMID: 1550793
- Korean J Immunol.
- 1999 Mar;21(1):25-34.
Programmed cell death (PCD), or apoptosis, plays an important role in embryonic development, metamorphsis, hormone-dependent atrophy and tumor growth, as a physiological event regulating the cell number or eliminating damaged... -
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- Antioxidant Effect of Allopurinol on Oxygen Radical-Induced Toxicity in Cultured Mouse Cerebral Neurons
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Park ST, Oh JM, Kim JJ, Choi MK, Chung YT
- KMID: 2283104
- Korean J Phys Anthropol.
- 1998 Dec;11(2):307-315.
In order to elucidate the neurotoxic effect of oxygen radicals on cultured mouse cerebral neurons, the neurotoxicity induced by xanthine oxidase (XO) and hypoxanthine (HX), was evaluated by MTT assay.... -
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- Effect of Allopurinol Pretreatment on Superoxide Dismutase Activity in Ischemia Reperfusion Injury to Skeletal Muscles of the Hindlimbs of the Rats
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Shin KC, Kim DH, Paek DJ, Chung HS
- KMID: 2423586
- J Korean Orthop Assoc.
- 1996 Feb;31(1):131-139.
- doi: 10.4055/jkoa.1996.31.1.131
It has been well known that ischemia reperfusion injury to skeletal muscle following an acute arterial occulusion causes significant morbidity and mortality. The skeletal muscle, which contains high energy phosphate... -
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- The Effect of O2 Radical Scavenger (SOD) and Intrarenal Calcium Membrane Blocker (verapamil) in the Renal Function Following Warm Ischemia
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Lee AK, Kim SW
- KMID: 1991539
- Korean J Urol.
- 1989 Apr;30(2):148-153.
During renal ischemia, ATP is degraded to hypoxanthine. When xanthine oxidase converts hypoxanthine to xanthine in the presence of molecular oxygen, superoxide radical (O2) is generated. This is toxic to... -
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