- 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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- 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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- 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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- 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
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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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- 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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- 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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- Validation of Housekeeping Genes for Gene Expression Analysis in Glioblastoma Using Quantitative Real-Time Polymerase Chain Reaction
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Aithal MG, Rajeswari
- KMID: 1882006
- Brain Tumor Res Treat.
- 2015 Apr;3(1):24-29.
- doi: 10.14791/btrt.2015.3.1.24
BACKGROUND: Quantitative real-time polymerase chain reaction (qPCR) is the most reliable tool for gene expression studies. Selection of housekeeping genes (HKGs) that are having most stable expression is critical to... -
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- In Vitro Assessment of Cytotoxicity and Mutagenicity of Rock Wool Fibers
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Hong YC, Lee KH
- KMID: 2282883
- Korean J Prev Med.
- 1997 Sep;30(3):555-566.
This study was carried out to evaluate the cytotoxicity of rock wool fibers(RWFs) such as cell division disturbance, chromosomal and DNA damage, and mutagenicity using cultured cells. RWFs were the... -
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- Clinicopathologic Characteristics of Replication Error-Positive Gastric Adenocarcinoma in Korean
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Lee JH, Kim MH, Lee WS, Kim YJ, Jee MS, Lee KM, Juhng SW, Choi C
- KMID: 1725701
- Korean J Pathol.
- 2000 Jul;34(7):488-493.
The purpose of this study is to obtain the clinicopathological characteristics of replication error-positive (RER ) gastric adenocarcinoma in Korean, and to identify the significance of RER in adenoma stage... -
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- Electron Microscopic Analysis of Apoptosis of HGPRT- Mouse Myeloma Cell Induced by Aminopterin, a de novo Pathway Blocking Agent
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Choi Y, Chung YH, Cho YJ, Choi YK
- KMID: 1557242
- Korean J Immunol.
- 1998 Dec;20(4):389-396.
Programrned cell death (PCD), or apoptosis, is a process by which cells die in response to specific physiological and toxicological signals. This genetically programmed form of cellular suicide is intirnately... -
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- Apoptosis-Induced Gene Profiles of a Myeloma Cell P3-X63-Ag8.653
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Bahng HS, Chung YH
- KMID: 1808157
- Immune Netw.
- 2006 Sep;6(3):128-137.
- doi: 10.4110/in.2006.6.3.128
BACKGROUND: Apoptosis is a physiologic phenomenon involved in development, elimination of damaged cells, and maintenance of cell homeostasis. Deregulation of apoptosis may cause diseases, such as cancers, immune diseases, and... -
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- Comparison of Protein Expression in Normal Myometrium and Uterine Leiomyoma Using Two-Dimensional Gel Electrophoresis in Korean Women
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Lee SK, Bae SM, Kim KW, Kim MS, Park EK, Kim YW, Ro DY, Lee JM, Namkoong S, Kim CK, Ahn WS
- KMID: 2272298
- Korean J Obstet Gynecol.
- 2004 Apr;47(4):618-626.
OBJECTIVE: Comparison of protein expression by two-dimensional gel electrophoresis (2-DE) in normal myometrium and uterine leiomyoma in Korean women. METHODS: Normal myometrium and uterine leiomyoma tissues were solubilized with 2-DE... -
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- Molecular analysis of hprt mutation in B6C3F1 mice exposed to ozone alone and combined treatment of 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone and/or dibutyl phthalate for 32 and 52 weeks
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Kim MY, Kim HW, Park JH, Kim JS, Jin H, Moon SH, Eu KJ, Cho HS, Kang G, Kim YS, Kim YC, Kim HY, Lee KH, Cho MH
- KMID: 1093634
- J Vet Sci.
- 2004 Dec;5(4):379-385.
Potential toxicological interactions of 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone (NNK) and/or dibuthyl phthalate (DBP) on ozone were investigated after 32- and 52-wk exposures using hprt mutation assay. Male and female B6C3F1 mice exposed to... -
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