- Lesch–Nyhan syndrome: a case report
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Park HI, Kim GH, Ahn KM
- KMID: 2545590
- J Korean Assoc Oral Maxillofac Surg.
- 2023 Aug;49(4):228-232.
- doi: 10.5125/jkaoms.2023.49.4.228
Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid,... -
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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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- 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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