메뉴 건너뛰기




Volumn 92, Issue 11, 1999, Pages 1509-1514

Metabolic and genetic investigations of cardiomyopathy in childhood;Explorations metaboliques et genetiques des cardiomyopathies de l'enfant

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; FATTY ACID; GLYCOGEN; MITOCHONDRIAL DNA;

EID: 0032710850     PISSN: 00039683     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (5)

References (29)
  • 1
    • 0028347574 scopus 로고
    • Inherited cardiomyopathies
    • Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med 1994 ; 330 : 913-9.
    • (1994) N Engl J Med , vol.330 , pp. 913-919
    • Kelly, D.P.1    Strauss, A.W.2
  • 2
    • 0000243356 scopus 로고
    • Glycogen storage disease
    • : Scriver CR, Beaudet AL, Sly WS Valle D (eds). New York : McGraw-Hill
    • Hers H, Van Hoof F, DeBarsy T. Glycogen storage disease. In : Scriver CR, Beaudet AL, Sly WS Valle D (eds). The metabolic basis of inherited disease. 6th ed. Vol 1. New York : McGraw-Hill, 1989 : 425-52.
    • (1989) The Metabolic Basis of Inherited Disease. 6th Ed. , vol.1 , pp. 425-452
    • Hers, H.1    Van Hoof, F.2    DeBarsy, T.3
  • 3
    • 0001607995 scopus 로고
    • Acyl-CoA dehydrogenase deficiencies
    • Scriver CR, Beaudet AL, Sly WS Valle D (eds). New York : McGraw-Hill
    • Roe CR, Coates PM. Acyl-CoA dehydrogenase deficiencies. In : Scriver CR, Beaudet AL, Sly WS Valle D (eds). The metabolic basis of inherited disease. 6th ed. Vol 1. New York : McGraw-Hill, 1989 : 889-914.
    • (1989) The Metabolic Basis of Inherited Disease. 6th Ed. , vol.1 , pp. 889-914
    • Roe, C.R.1    Coates, P.M.2
  • 4
    • 0000834937 scopus 로고
    • Disorders of fatty acid oxidation
    • Fernandes J, Saudubray JM, Van den Berghe G (eds). Berlin : Springer-Verlag
    • Stanley CA. Disorders of fatty acid oxidation. In : Fernandes J, Saudubray JM, Van den Berghe G (eds). Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd Ed. Berlin : Springer-Verlag, 1995 : 133-43.
    • (1995) Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd Ed. , pp. 133-143
    • Stanley, C.A.1
  • 5
  • 6
    • 0018748414 scopus 로고
    • Myopathie lipidique et cardiomyopathie sévère par déficit généralisé en carnitine
    • Morand P, Despert F, Carrier HN et al. Myopathie lipidique et cardiomyopathie sévère par déficit généralisé en carnitine. Arch Mal Cœur 1979 ; 79 : 536-44.
    • (1979) Arch Mal Cœur , vol.79 , pp. 536-544
    • Morand, P.1    Despert, F.2    Carrier, H.N.3
  • 7
    • 0025314693 scopus 로고
    • Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA
    • Martiniukk F, Mehler M, Tzall S, Meredith G, Hirschhorn R. Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA. Am J Hum Genet 1990 ; 47 : 73-8.
    • (1990) Am J Hum Genet , vol.47 , pp. 73-78
    • Martiniukk, F.1    Mehler, M.2    Tzall, S.3    Meredith, G.4    Hirschhorn, R.5
  • 8
    • 0010728581 scopus 로고
    • La transplantation médullaire dans le traitement des maladies héréditaires du métabolisme
    • Saudubray JM (ed). Paris : Doin
    • Fisher A. La transplantation médullaire dans le traitement des maladies héréditaires du métabolisme. In : Saudubray JM (ed). Maladies métaboliques. Paris : Doin, 1991 : 233-8.
    • (1991) Maladies Métaboliques , pp. 233-238
    • Fisher, A.1
  • 9
    • 0033004986 scopus 로고    scopus 로고
    • Recognition and management of fatty acid oxidation defects: A series of 107 patients
    • Saudubray JM, Martin D, de Lonlay P et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherited Metab Dis 1999 ; 22 : 488-502.
    • (1999) J Inherited Metab Dis , vol.22 , pp. 488-502
    • Saudubray, J.M.1    Martin, D.2    De Lonlay, P.3
  • 10
    • 0029085021 scopus 로고
    • Disorders of mitochondrial long-chain Fatty acid oxidation
    • Pollitt RJ. Disorders of mitochondrial long-chain Fatty acid oxidation. J Inherited Metab Dis 1995 ; 18 : 473-90.
    • (1995) J Inherited Metab Dis , vol.18 , pp. 473-490
    • Pollitt, R.J.1
  • 11
    • 0019830914 scopus 로고
    • Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy
    • Tripp ME, Katcher ML, Peters HA et al. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med 1981 ; 305 : 385-90.
    • (1981) N Engl J Med , vol.305 , pp. 385-390
    • Tripp, M.E.1    Katcher, M.L.2    Peters, H.A.3
  • 12
    • 0344490734 scopus 로고
    • Primary systemic carnitine deficiency manifested by carnitine-responsive cardiomyopathy
    • Ferrari R, DiMauro S, Sherwood G (eds). London : Academic Press
    • Tein I, DiMauro S. Primary systemic carnitine deficiency manifested by carnitine-responsive cardiomyopathy. In: Ferrari R, DiMauro S, Sherwood G (eds). L-carnitine and its role in medicine: from function to therapy. London : Academic Press, 1992 : 155-84.
    • (1992) L-carnitine and Its Role in Medicine: From Function to Therapy , pp. 155-184
    • Tein, I.1    DiMauro, S.2
  • 13
    • 0027513206 scopus 로고
    • Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo-ventricular block. Translocase assay in permeabilized fibroblasts
    • Pande SV, Brivet N, Slama A, Demaugre F, Aufrant C, Saudubray JM. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo-ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 1993 ; 91 : 1247-52.
    • (1993) J Clin Invest , vol.91 , pp. 1247-1252
    • Pande, S.V.1    Brivet, N.2    Slama, A.3    Demaugre, F.4    Aufrant, C.5    Saudubray, J.M.6
  • 14
    • 0029985828 scopus 로고    scopus 로고
    • Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acyl-carnitine analysis in the proband Guthrie card and enzymatic studies in the parents
    • Brivet N, Slama A, Millington DS et al. Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acyl-carnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inherited Metab Dis 1996 ; 19 : 181-4.
    • (1996) J Inherited Metab Dis , vol.19 , pp. 181-184
    • Brivet, N.1    Slama, A.2    Millington, D.S.3
  • 15
    • 0026061030 scopus 로고
    • Amphipathic lipid metabolites and their relation to arrhythmogenesis in the ischemic heart
    • DaTorre SD, Creer MH, Pogwizd SM, Corr PB. Amphipathic lipid metabolites and their relation to arrhythmogenesis in the ischemic heart. J Moll Cell Cardiol 1991 ; 23 (suppl. I) : 11-22.
    • (1991) J Moll Cell Cardiol , vol.23 , Issue.1 SUPPL. , pp. 11-22
    • DaTorre, S.D.1    Creer, M.H.2    Pogwizd, S.M.3    Corr, P.B.4
  • 16
    • 0029073089 scopus 로고
    • Cloning of human very-long-chain acyl-Coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients
    • Aoyama T, Souti M, Ueno I et al. Cloning of human very-long-chain acyl-Coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet 1995 ; 57 : 273-83.
    • (1995) Am J Hum Genet , vol.57 , pp. 273-283
    • Aoyama, T.1    Souti, M.2    Ueno, I.3
  • 17
    • 0025242644 scopus 로고    scopus 로고
    • Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
    • Rocchiccioli F, Wanders RJ, Aubourg P et al. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 1996 ; 28 : 657-62.
    • (1996) Pediatr Res , vol.28 , pp. 657-662
    • Rocchiccioli, F.1    Wanders, R.J.2    Aubourg, P.3
  • 18
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherited Metab Dis 1990 ; 13 : 321-4.
    • (1990) J Inherited Metab Dis , vol.13 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 19
    • 0028931461 scopus 로고
    • Rapid diagnosis of long chain and medium chain fatty acid oxidation using lymphocytes
    • Brivet M, Slama A, Saudubray JM, Legrand A, Lemonnier A. Rapid diagnosis of long chain and medium chain fatty acid oxidation using lymphocytes. Ann Clin Biochem 1995 ; 32 : 154-9.
    • (1995) Ann Clin Biochem , vol.32 , pp. 154-159
    • Brivet, M.1    Slama, A.2    Saudubray, J.M.3    Legrand, A.4    Lemonnier, A.5
  • 20
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992 ; 61 : 1175-212.
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 21
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988 ; 38 : 1339-46.
    • (1988) Neurology , vol.38 , pp. 1339-1346
    • Zeviani, M.1    Moraes, C.T.2    DiMauro, S.3
  • 22
    • 0026647176 scopus 로고
    • Activités enzymatiques de la chaîne respiratoire mitochondriale dans les myocardiopathies de l'enfant
    • Sidi D, Le Bidois J, Piéchaud JF et al. Activités enzymatiques de la chaîne respiratoire mitochondriale dans les myocardiopathies de l'enfant. Arch Mal Cœur 1992 ; 85 : 541-6.
    • (1992) Arch Mal Cœur , vol.85 , pp. 541-546
    • Sidi, D.1    Le Bidois, J.2    Piéchaud, J.F.3
  • 23
    • 0027237160 scopus 로고
    • Investigation of respiratory chain activity in human heart
    • Rustin P, Chrétien D, Bourgeron T et al. Investigation of respiratory chain activity in human heart. Biochem Med Metab Biol 1993 ; 50 : 120-6.
    • (1993) Biochem Med Metab Biol , vol.50 , pp. 120-126
    • Rustin, P.1    Chrétien, D.2    Bourgeron, T.3
  • 24
    • 0028010899 scopus 로고
    • Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies
    • Rustin P, Le Bidois J, Chrétien D et al. Endomyocardial biopsies For early detection of mitochondrial disorders in hypertrophic cardiomyopathies. J Pediatr 1994 ; 124 : 224-8.
    • (1994) J Pediatr , vol.124 , pp. 224-228
    • Rustin, P.1    Le Bidois, J.2    Chrétien, D.3
  • 25
    • 0020974404 scopus 로고
    • An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
    • Barth PG, Scholte HR, Berden JA et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983 ; 62 : 327-55.
    • (1983) J Neurol Sci , vol.62 , pp. 327-355
    • Barth, P.G.1    Scholte, H.R.2    Berden, J.A.3
  • 26
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with mutliple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with mutliple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989 ; 239 : 309-11.
    • (1989) Nature , vol.239 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 27
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    • Rötig Á, de Lonlay P, Chrétien D et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet 1997 ; 17 : 215-7.
    • (1997) Nature Genet , vol.17 , pp. 215-217
    • Rötig, Á.1    De Lonlay, P.2    Chrétien, D.3
  • 28
    • 0032080504 scopus 로고    scopus 로고
    • Efficiency metabolic screening in childhood cardiomyopathies
    • Bonnet D, de Lonlay-Debeney P, Gautier I et al. Efficiency metabolic screening in childhood cardiomyopathies. Eur Heart J 1998 ; 19 : 790-3.
    • (1998) Eur Heart J , vol.19 , pp. 790-793
    • Bonnet, D.1    De Lonlay-Debeney, P.2    Gautier, I.3
  • 29
    • 17644435180 scopus 로고    scopus 로고
    • Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life
    • Boles RG, Buck EA, Blitzer MG et al. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr 1998 ; 132 : 924-33.
    • (1998) J Pediatr , vol.132 , pp. 924-933
    • Boles, R.G.1    Buck, E.A.2    Blitzer, M.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.