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Volumn 136, Issue 2, 2000, Pages 251-254

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 0033943231     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(00)70111-9     Document Type: Article
Times cited : (45)

References (12)
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    • Oxidative phosphorylation diseases
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: Mcgraw-Hill
    • 1. Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: Mcgraw-Hill; 1995. p. 1552-81.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 1552-1581
    • Shoffner, J.M.1    Wallace, D.C.2
  • 2
    • 0023196089 scopus 로고
    • Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport: Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalomyopathy
    • 2. Hoppel CL, Kerr DS, Dahms B, Rossmann U. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport: fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalomyopathy. J Clin Invest 1987;80:71-7.
    • (1987) J Clin Invest , vol.80 , pp. 71-77
    • Hoppel, C.L.1    Kerr, D.S.2    Dahms, B.3    Rossmann, U.4
  • 3
    • 0028147894 scopus 로고
    • Secondary 3-hydroxydicarbox-ylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • 3. Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB. Secondary 3-hydroxydicarbox-ylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 1994;17:283-6.
    • (1994) J Inher Metab Dis , vol.17 , pp. 283-286
    • Bennett, M.J.1    Weinberger, M.J.2    Sherwood, W.G.3    Burlina, A.B.4
  • 5
    • 0030775662 scopus 로고    scopus 로고
    • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
    • 5. Tyni T, Palotie A, Viinikka L, Valanne L, Salo M, von Dobeln U, et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 1997;130:67-76.
    • (1997) J Pediatr , vol.130 , pp. 67-76
    • Tyni, T.1    Palotie, A.2    Viinikka, L.3    Valanne, L.4    Salo, M.5    Von Dobeln, U.6
  • 6
    • 0025883057 scopus 로고
    • Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria
    • 6. Tserng K-Y, Jin S-J, Kerr DS, Hoppel CL. Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria. Metabolism 1991;40:676-82.
    • (1991) Metabolism , vol.40 , pp. 676-682
    • Tserng, K.-Y.1    Jin, S.-J.2    Kerr, D.S.3    Hoppel, C.L.4
  • 7
    • 0027255176 scopus 로고
    • Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect
    • 7. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB. Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inher Metab Dis 1993;16:560-2.
    • (1993) J Inher Metab Dis , vol.16 , pp. 560-562
    • Bennett, M.J.1    Sherwood, W.G.2    Gibson, K.M.3    Burlina, A.B.4
  • 8
    • 0030828147 scopus 로고    scopus 로고
    • Neonatal lethal mitochondnal trifunctional protein deficiency mimicking a respiratory chain defect
    • 8. Grünewald S, Bakkeren J, Wanders RA, Wendel U. Neonatal lethal mitochondnal trifunctional protein deficiency mimicking a respiratory chain defect. J Inher Metab Dis 1997;20: 835-6.
    • (1997) J Inher Metab Dis , vol.20 , pp. 835-836
    • Grünewald, S.1    Bakkeren, J.2    Wanders, R.A.3    Wendel, U.4
  • 9
    • 0027260368 scopus 로고
    • Muscle cytochrome c oxidase deficiency accompanied by urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency
    • 9. Christensen E, Brendt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome c oxidase deficiency accompanied by urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inher Metab Dis 1993; 16:553-6.
    • (1993) J Inher Metab Dis , vol.16 , pp. 553-556
    • Christensen, E.1    Brendt, N.J.2    Schmalbruch, H.3    Kamieniecka, Z.4    Hertz, B.5    Ruitenbeek, W.6
  • 12
    • 0029044651 scopus 로고
    • Mitochondropathy presenting with non-ketotic hypoglycemia as 3-hydroxydicarboxylic aciduria
    • 12. Mayatepek E, Wanders RJA, Becker M, Bremer HJ, Hoffmann GF. Mitochondropathy presenting with non-ketotic hypoglycemia as 3-hydroxydicarboxylic aciduria. J Inher Metab Dis 1995;18:249-52.
    • (1995) J Inher Metab Dis , vol.18 , pp. 249-252
    • Mayatepek, E.1    Wanders, R.J.A.2    Becker, M.3    Bremer, H.J.4    Hoffmann, G.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.