연구동향 분석

증례 : 신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례

여유미 ( Yoo Mi Yeo ) 최은영 ( Eun Young Choi ) 윤혜진 ( Hyae Jin Yoon ) 정소담 ( So Dam Jung ) 김담 ( Dam Kim ) 이승훈 ( Seung Hun Lee ) 주경빈 ( Kyung Bin Joo ) 전재범 ( Jae Bum Jun ) 2014년

논문상세정보
인용/피인용
' 증례 : 신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • hprt
  • lesch-nyhan
  • secondarygout
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
3 0

0.0%

' 증례 : 신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례' 의 참고문헌

  • 뚜렷한 신경학적 증상 없이 통풍성 관절염만으로 발현된 hypoxanthine-guanine phosphoribosyltransferase (HPRT) 완전 결핍증 (Lesch-Nyhan 병) 1례
    권병운 Kidney Research and Clinical Practice 28 (1) : 58 ~ 62 [2009]
  • The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families
    Puig JG Medicine (Baltimore) 80 : 102 ~ 112 - [2001]
  • The management of gout
    Emmerson BT N Engl J Med 334 : 445 ~ 451 - [1996]
  • Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis
    Kersnik Levart T Pediatr Nephrol 22 : 1975 ~ 1978 [2007]
  • Lesch-Nyhan disease: clinical experience with nineteen patients
    Christie R Dev Med Child Neurol 24 : 293 ~ 306 - [1982]
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification
    Sculley DG Hum Genet 87 : 688 ~ 692 - [1991]
  • Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
    Torres RJ Orphanet J Rare Dis 2 : 48 ~ - [2007]
  • Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population
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