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Volumn 15, Issue 7, 2000, Pages 445-448

Mitochondrial respiratory-chain defects presenting as nonspecific features in children

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MITOCHONDRIAL ENZYME;

EID: 0033928678     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500704     Document Type: Article
Times cited : (9)

References (23)
  • 1
    • 0002629236 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies
    • Rosenberg RN, Prusiner SB, DiMauro S, et al (eds): Boston, Butterworth-Heinemann
    • DiMauro S: Mitochondrial encephalomyopathies, in Rosenberg RN, Prusiner SB, DiMauro S, et al (eds): The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston, Butterworth-Heinemann, 1996.
    • (1996) The Molecular and Genetic Basis of Neurological Disease, 2nd Ed.
    • DiMauro, S.1
  • 2
    • 0343575524 scopus 로고
    • Mitochondrial myopathy
    • Feldman E (ed): St. Louis, Mosby-Year Book
    • DiMauro S: Mitochondrial myopathy, in Feldman E (ed): Current Diagnosis in Neurology. St. Louis, Mosby-Year Book, 1994, pp 340-345.
    • (1994) Current Diagnosis in Neurology , pp. 340-345
    • DiMauro, S.1
  • 3
    • 0027311861 scopus 로고
    • The expanding clinical spectrum of mitochondrial diseases
    • Devivo DC: The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993;15:1-22.
    • (1993) Brain Dev , vol.15 , pp. 1-22
    • Devivo, D.C.1
  • 4
    • 0027949132 scopus 로고
    • Partial NADH dehydrogenase defect presenting as spastic cerebral palsy
    • Tsao CY, Wright FS, Boesel CP, Luquette M: Partial NADH dehydrogenase defect presenting as spastic cerebral palsy. Brain Dev 1994;16:393-395.
    • (1994) Brain Dev , vol.16 , pp. 393-395
    • Tsao, C.Y.1    Wright, F.S.2    Boesel, C.P.3    Luquette, M.4
  • 5
    • 0025268466 scopus 로고
    • Myalgia with partial defects of mitochondrial enzyme and myoadenylate deaminase
    • Tsao CY, McComb RD: Myalgia with partial defects of mitochondrial enzyme and myoadenylate deaminase. Pediatr Neurol 1990; 6:65.
    • (1990) Pediatr Neurol , vol.6 , pp. 65
    • Tsao, C.Y.1    McComb, R.D.2
  • 6
    • 0031545822 scopus 로고    scopus 로고
    • Leigh syndrome, cytochrome c oxidase deficiency and hypsarrhythmia with infantile spasms
    • Tsao CY, Luquette M, Rusin JA, et al: Leigh syndrome, cytochrome c oxidase deficiency and hypsarrhythmia with infantile spasms. Clin EEG 1997;28:214-217.
    • (1997) Clin EEG , vol.28 , pp. 214-217
    • Tsao, C.Y.1    Luquette, M.2    Rusin, J.A.3
  • 8
    • 0027525492 scopus 로고
    • Mitochondrial encephalomyopathies
    • DiMauro S, Moraes CT: Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.
    • (1993) Arch Neurol , vol.50 , pp. 1197-1208
    • DiMauro, S.1    Moraes, C.T.2
  • 9
    • 0028952052 scopus 로고
    • Presentation and clinical investigation of mitochondrial respiratory chain disease, a study of 51 patients
    • Jackson MJ, Schaefer JA, Johnson MA, et al: Presentation and clinical investigation of mitochondrial respiratory chain disease, a study of 51 patients. Brain 1995;118:339-357.
    • (1995) Brain , vol.118 , pp. 339-357
    • Jackson, M.J.1    Schaefer, J.A.2    Johnson, M.A.3
  • 10
    • 0030670573 scopus 로고    scopus 로고
    • Clinical features, investigations, and management of patients with defects of mitochondrial DNA
    • Chinnery PF, Turnbull DM: Clinical features, investigations, and management of patients with defects of mitochondrial DNA. J Neurol Neurosurg Psychiatry 1997;63:559-563.
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 559-563
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 11
    • 0027290048 scopus 로고
    • Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
    • Hagberg BA, Blennow G, Kristiansson B, Stibler H: Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders. Pediatr Neurol 1993;9:255-262.
    • (1993) Pediatr Neurol , vol.9 , pp. 255-262
    • Hagberg, B.A.1    Blennow, G.2    Kristiansson, B.3    Stibler, H.4
  • 13
    • 0025133424 scopus 로고
    • Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
    • Rotig A, Cormier V, Blanche S, et al: Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-1608.
    • (1990) J Clin Invest , vol.86 , pp. 1601-1608
    • Rotig, A.1    Cormier, V.2    Blanche, S.3
  • 14
    • 0029869935 scopus 로고    scopus 로고
    • Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver failure
    • Bakker HD, Scholte HR, Dingemans KP, et al: Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver failure. J Pediatr 1996;128:683-687.
    • (1996) J Pediatr , vol.128 , pp. 683-687
    • Bakker, H.D.1    Scholte, H.R.2    Dingemans, K.P.3
  • 15
    • 0026569283 scopus 로고
    • Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia
    • Rotig A, Bessis JL, Romero N, et al: Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 1992;50:364-370.
    • (1992) Am J Hum Genet , vol.50 , pp. 364-370
    • Rotig, A.1    Bessis, J.L.2    Romero, N.3
  • 16
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
    • Ballinger SW, Schoffner JM, Hedaya EV, et al: Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1992;1:11-15.
    • (1992) Nat Genet , vol.1 , pp. 11-15
    • Ballinger, S.W.1    Schoffner, J.M.2    Hedaya, E.V.3
  • 17
    • 0027526665 scopus 로고
    • Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness
    • Rotig A, Cormier V, Chatelain P, et al: Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness. J Clin Invest 1992;91:1095-1098.
    • (1992) J Clin Invest , vol.91 , pp. 1095-1098
    • Rotig, A.1    Cormier, V.2    Chatelain, P.3
  • 18
    • 0025880079 scopus 로고
    • Cardiomyopathy with mitochondrial DNA mutations
    • Hattori K, Ogawa T, Kondo T, et al: Cardiomyopathy with mitochondrial DNA mutations. Am Heart J 1991;122:866-869.
    • (1991) Am Heart J , vol.122 , pp. 866-869
    • Hattori, K.1    Ogawa, T.2    Kondo, T.3
  • 19
    • 0025004427 scopus 로고
    • Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy
    • Ozawa T, Tanaka M, Sugiyama S, et al: Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 1990; 170:830-836.
    • (1990) Biochem Biophys Res Commun , vol.170 , pp. 830-836
    • Ozawa, T.1    Tanaka, M.2    Sugiyama, S.3
  • 20
    • 0031560220 scopus 로고    scopus 로고
    • Cyclic vomiting syndrome and mitochondrial DNA mutations
    • Boles RG, Chin N, Senadheera D, Wong LC: Cyclic vomiting syndrome and mitochondrial DNA mutations. Lancet 1997;350: 1299-1300.
    • (1997) Lancet , vol.350 , pp. 1299-1300
    • Boles, R.G.1    Chin, N.2    Senadheera, D.3    Wong, L.C.4
  • 21
    • 0030843425 scopus 로고    scopus 로고
    • A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy
    • Verma A, Piccoli DA, Bonilla E, et al: A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Pediatr Res 1997;42:448-454.
    • (1997) Pediatr Res , vol.42 , pp. 448-454
    • Verma, A.1    Piccoli, D.A.2    Bonilla, E.3
  • 22
    • 0028156783 scopus 로고
    • Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
    • Cormier-Daire V, Bonnefont JP, Rustin P, et al: Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994;124:63-70.
    • (1994) J Pediatr , vol.124 , pp. 63-70
    • Cormier-Daire, V.1    Bonnefont, J.P.2    Rustin, P.3
  • 23
    • 0026579780 scopus 로고
    • Clinical aspects of mitochondrial disorders
    • Munnich A, Rustin P, Rotig A, et al: Clinical aspects of mitochondrial disorders. Int Pediatr 1992;7:28-33.
    • (1992) Int Pediatr , vol.7 , pp. 28-33
    • Munnich, A.1    Rustin, P.2    Rotig, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.