- 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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- General Anesthesia for Extracorporeal Shockwave Lithotripsyin Child with Lesch-Nyhan Syndrome
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Park SJ, Kwon IC, Lee WK, Lee DH
- KMID: 2320120
- Yeungnam Univ J Med.
- 2008 Jun;25(1):78-83.
Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked... -
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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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- 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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- Anesthetic Experience of Percutaneous Nephrolithotomy for Renal Calculi in a Patient with Lesch-Nyhan Syndrome: A case report
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Jun IG, Chin JH, Kim YK, Kim YU, Cho SK, Hwang GS, Hwang JH
- KMID: 2236604
- Korean J Anesthesiol.
- 2007 Oct;53(4):520-523.
- doi: 10.4097/kjae.2007.53.4.520
Lesch-Nyhan syndrome (LNS) is a rare, X-linked recessive inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine-phophoribosyltransferase, leading to excessive purine production and elevation of uric acid. Clinical manifestations... -
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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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- 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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- Molecular characterization and Prenatal Molecular Evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome
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Yoo HW, Kim GH
- KMID: 1538079
- J Genet Med.
- 1998 Mar;2(1):17-22.
The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management... -
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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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- Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene
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Yang JH, Park MH, Kim DS, Shim JW, Shim JY, Jung HL, Park MS, Yoo HW
- KMID: 2197726
- J Korean Soc Pediatr Nephrol.
- 2003 Apr;7(1):86-90.
An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was... -
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