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Volumn 19, Issue 3, 1996, Pages 243-246

Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

Author keywords

carnitrine deficiency; familial cardiomyopathy; mitochondrial beta oxidation; sudden infant death

Indexed keywords

CARNITINE;

EID: 0029812810     PISSN: 01609289     EISSN: None     Source Type: Journal    
DOI: 10.1002/clc.4960190320     Document Type: Article
Times cited : (35)

References (14)
  • 1
    • 0021024932 scopus 로고
    • Carnitine-metabolism and functions
    • Bremer J: Carnitine-metabolism and functions. Phvsiol Rev 1983;63:1420-1480
    • (1983) Phvsiol Rev , vol.63 , pp. 1420-1480
    • Bremer, J.1
  • 2
    • 0026718314 scopus 로고
    • Fatty acid oxidation disorders: A new class of metabolic diseases
    • Hale DE, Bennett MJ: Fatty acid oxidation disorders: A new class of metabolic diseases. J Pediatr 1992;121:1-11
    • (1992) J Pediatr , vol.121 , pp. 1-11
    • Hale, D.E.1    Bennett, M.J.2
  • 4
    • 0026096951 scopus 로고
    • Hypoglycemia, hypotonia and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency
    • Treem W, Stanley CA, Hale DE, Leopold HB, Hyams JS: Hypoglycemia, hypotonia and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. Pediatrics 1991;87:328-333
    • (1991) Pediatrics , vol.87 , pp. 328-333
    • Treem, W.1    Stanley, C.A.2    Hale, D.E.3    Leopold, H.B.4    Hyams, J.S.5
  • 5
    • 0025001905 scopus 로고
    • Long-chain 3-hydroxacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid β-oxidation
    • Wanders RJA, Ijlst L, van Gennip AL, Jakobs C, De Jager JP, Dorland L, Van Sprang FJ, Duran M: Long-chain 3-hydroxacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid β-oxidation. J Inher Metab Dis 1990;13:311-314
    • (1990) J Inher Metab Dis , vol.13 , pp. 311-314
    • Rja, W.1    Ijlst, L.2    Van Gennip, A.L.3    Jakobs, C.4    De Jager, J.P.5    Dorland, L.6    Van Sprang, F.J.7    Duran, M.8
  • 7
    • 0019830914 scopus 로고
    • Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy
    • Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL: Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy. N Engl J Med 1981;305:385-390
    • (1981) N Engl J Med , vol.305 , pp. 385-390
    • Tripp, M.E.1    Katcher, M.L.2    Peters, H.A.3    Gilbert, E.F.4    Arya, S.5    Hodach, R.J.6    Shug, A.L.7
  • 8
    • 0017071784 scopus 로고
    • An improved and simplified radioisotopic assay for the determination of free and esterified carnitine
    • McGarry JD, Foster DW: An improved and simplified radioisotopic assay for the determination of free and esterified carnitine. J Lipid Res 1976;17:217-281
    • (1976) J Lipid Res , vol.17 , pp. 217-281
    • McGarry, J.D.1    Foster, D.W.2
  • 9
    • 0024246260 scopus 로고
    • Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts
    • Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts. N Engl J Med 1988;319:1331-1336
    • (1988) N Engl J Med , vol.319 , pp. 1331-1336
    • Treem, W.R.1    Stanley, C.A.2    Finegold, D.N.3    Hale, D.E.4    Coates, P.M.5
  • 11
    • 0029093346 scopus 로고
    • Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts
    • Tein I, DiMauro S, Xie Z-W, De Vivo DC: Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts. J Inher Metab Dis 1995;18:313-322
    • (1995) J Inher Metab Dis , vol.18 , pp. 313-322
    • Tein, I.1    DiMauro, S.2    Xie, Z.-W.3    De Vivo, D.C.4
  • 13
    • 0019949555 scopus 로고
    • Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport
    • Waber LJ, Valle D, Neill C, Di Mauro S, Shug A: Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport. J Pediatr 1982;101:700-704
    • (1982) J Pediatr , vol.101 , pp. 700-704
    • Waber, L.J.1    Valle, D.2    Neill, C.3    Di Mauro, S.4    Shug, A.5
  • 14
    • 0029437586 scopus 로고
    • Carnitine disorders
    • Stanley CA: Carnitine disorders. Adv Pediatr 1995;42:209-242
    • (1995) Adv Pediatr , vol.42 , pp. 209-242
    • Stanley, C.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.