Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 12 Issue 1
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- Pages.42-48
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- 2012
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- 2287-4712(pISSN)
Korean Children with Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy: Experiences in a Single Institution
단일 기관에서 경험한 비후성 심근병증으로 발현된 영아형 폼페병
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Ko, Jung Min
(Department of Pediatrics, Seoul National University College of Medicine) ;
- Lee, Young Ah (Department of Pediatrics, Seoul National University College of Medicine) ;
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Kim, Gi Beom
(Department of Pediatrics, Seoul National University College of Medicine) ;
- Park, Sung Sup (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
- Song, Jung-Han (Department of Laboratory Medicine, Seoul National University College of Medicine)
-
고정민
(서울대학교 의과대학 소아과학교실) ;
- 이영아 (서울대학교 의과대학 소아과학교실) ;
-
김기범
(서울대학교 의과대학 소아과학교실) ;
- 박성섭 (서울대학교 의과대학 진단검사의학교실) ;
- 송정한 (서울대학교 의과대학 진단검사의학교실)
- Published : 2012.06.30
Abstract
Pompe disease is a rare lysosomal glycogen storage disorder caused by a total or partial deficiency of the acid
폼페병은 GAA 유전자의 돌연변이로 인해 acid
Keywords