신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 여유미 | - |
dc.contributor.author | 최은영 | - |
dc.contributor.author | 윤혜진 | - |
dc.contributor.author | 정소담 | - |
dc.contributor.author | 김담 | - |
dc.contributor.author | 이승훈 | - |
dc.contributor.author | 주경빈 | - |
dc.contributor.author | 전재범 | - |
dc.date.accessioned | 2022-07-16T02:37:03Z | - |
dc.date.available | 2022-07-16T02:37:03Z | - |
dc.date.created | 2021-05-13 | - |
dc.date.issued | 2014-10 | - |
dc.identifier.issn | 2093-940X | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/158929 | - |
dc.description.abstract | 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 to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom. | - |
dc.language | 한국어 | - |
dc.language.iso | ko | - |
dc.publisher | 대한류마티스학회 | - |
dc.title | 신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례 | - |
dc.title.alternative | A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | 이승훈 | - |
dc.contributor.affiliatedAuthor | 전재범 | - |
dc.identifier.doi | 10.4078/jrd.2014.21.4.192 | - |
dc.identifier.bibliographicCitation | 대한류마티스학회지, v.21, no.4, pp.192 - 195 | - |
dc.relation.isPartOf | 대한류마티스학회지 | - |
dc.citation.title | 대한류마티스학회지 | - |
dc.citation.volume | 21 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 192 | - |
dc.citation.endPage | 195 | - |
dc.type.rims | ART | - |
dc.identifier.kciid | ART001908692 | - |
dc.description.journalClass | 2 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordAuthor | Lesch-Nyhan | - |
dc.subject.keywordAuthor | HPRT | - |
dc.subject.keywordAuthor | Secondary gout | - |
dc.identifier.url | https://synapse.koreamed.org/articles/1064119 | - |
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