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Volumn 15, Issue SUPPL. 2, 2000, Pages 68-78

Morphological correlates of mitochondrial dysfunction in children

Author keywords

Mitochondria; Mitochondrial diseases; Multiple tissues; Pathology; Ultrastructure

Indexed keywords

ALPERS DISEASE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CHILD; CONFERENCE PAPER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; HUMAN; KEARNS SAYRE SYNDROME; LEIGH DISEASE; LETHAL INFANTILE MITOCHONDRIAL DISEASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MORPHOLOGY; MYONEUROGASTROINTESTINAL ENCEPHALOPATHY LIKE SYNDROME; PATHOLOGICAL ANATOMY; PEARSON SYNDROME; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

EID: 0033646624     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/15.suppl_2.68     Document Type: Conference Paper
Times cited : (42)

References (36)
  • 3
    • 0030015691 scopus 로고    scopus 로고
    • Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
    • (1996) Neurology , vol.47 , pp. 243-248
    • Bentlage, H.A.1    Wendel, U.2    Schagger, H.3
  • 8
    • 0020557211 scopus 로고
    • Mitochondrial cytochrome deficiency presenting as myopathy with hypotonia, external ophthalmoplegia and lactic acidosis and fatal hepatopathy in a second cousin
    • (1983) Neurology , vol.14 , pp. 462-470
    • Boustany, R.N.1    Aprille, J.R.2    Halperin, J.3
  • 16
    • 0024999128 scopus 로고
    • Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal view
    • (1990) J. Child Neurol. , vol.5 , pp. 273-287
    • Harding, B.N.1
  • 21
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Unusual syndrome with histologic study in one of two cases
    • (1958) Arch. Ophthalmol. , vol.60 , pp. 280-289
    • Kearns, T.P.1    Sayre, G.P.2
  • 25
    • 0018393867 scopus 로고
    • An X-linked recessive cardiomyopathy with abnormal mitochondria
    • (1979) Pediatrics , vol.64 , pp. 24-29
    • Neustein, H.B.1
  • 32
    • 0033646445 scopus 로고    scopus 로고
    • Practical problems in detecting abnormal mitochondrial function and genomes
    • (2000) Hum. Reprod. , vol.15 , Issue.SUPPL. 2 , pp. 57-67
    • Thorburn, D.R.1
  • 36
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    • (1998) Nature Genet. , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.