지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 118 - 122 (5page)
이용수
초록· 키워드
오류제보하기
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many unexplained neurological disorders including epilepsy, cerebral palsy, delayed development and hypotonia. We retrospectively reviewed clinical and laboratory features of 16 patients who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscles to characterize clinical and laboratory features for MRC defects and provide more precise diagnosis and effective treatments. In the patients with uncontrolled seizure activity, developmental regression, characteristic features of bilateral symmetric high signal intensity at deep nucleus and/or white matter in T2WI, the mitochondrial cytopathies should be added to the list of differential diagnoses. And lactate elevation in magnetic resonance spectroscopy (MRS) can be useful in the diagnosis of mitochondrial cytopathies.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Bernier FP / 2002 / Diagnostic criteria for respiratory chain disorders in adults and children / Neurology 59 : 1406 ~ 1411
Dinopoulos A / 2005 / Brain MRI and proton MRS findings in infants and children with respiratory chain defects / Neuropediatrics 36 : 290 ~ 301
Garcia-Cazorla A / 2005 / Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients / Pediatrics 116 : 1170 ~ 1177
Longo N / 2003 / Mitochondrial encephalopathy / Neurol Clin N Am 21 : 817 ~ 831
Miles L / 2006 / Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods /
Dinopoulos A / 2005 / Brain MRI and proton MRS findings in infants and children with respiratory chain defects / Neuropediatrics 36 : 290 ~ 301
Garcia-Cazorla A / 2005 / Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients / Pediatrics 116 : 1170 ~ 1177
Longo N / 2003 / Mitochondrial encephalopathy / Neurol Clin N Am 21 : 817 ~ 831
Miles L / 2006 / Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods /
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