메뉴 건너뛰기




Volumn 63, Issue 2, 2014, Pages 107-110

A cause of dilated cardiomyopathy in child: Primary carnitine deficiency;Une cause de cardiomyopathie dilatée chez l'enfant : Le déficit primaire en carnitine

Author keywords

Cardiomyopathy; Carnitine; Fatty acid oxydation

Indexed keywords

CARNITINE; BIOLOGICAL MARKER; ORGANIC CATION TRANSPORTER; SLC22A5 PROTEIN, HUMAN; VITAMIN B COMPLEX;

EID: 84899493719     PISSN: 00033928     EISSN: 17683181     Source Type: Journal    
DOI: 10.1016/j.ancard.2011.12.006     Document Type: Article
Times cited : (1)

References (12)
  • 2
    • 34548831939 scopus 로고    scopus 로고
    • A case of early diagnosed carnitine deficiency presenting with respiratory symptoms
    • Erguven M., Yilmaz O., Koc S., Caki S., Ayhan Y., Donmez M., Dolunay G. A case of early diagnosed carnitine deficiency presenting with respiratory symptoms. Ann Nutr Metab 2007, 51(4):331-334.
    • (2007) Ann Nutr Metab , vol.51 , Issue.4 , pp. 331-334
    • Erguven, M.1    Yilmaz, O.2    Koc, S.3    Caki, S.4    Ayhan, Y.5    Donmez, M.6    Dolunay, G.7
  • 3
    • 0034842137 scopus 로고    scopus 로고
    • Carnitine transport by organic cation transporters and systemic carnitine deficiency
    • Lahjouji K., Mitchell G.A., Qureshi J.A. carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol Gen Metab 2001, 73:287-297.
    • (2001) Mol Gen Metab , vol.73 , pp. 287-297
    • Lahjouji, K.1    Mitchell, G.A.2    Qureshi, J.A.3
  • 4
    • 0035052047 scopus 로고    scopus 로고
    • Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
    • Wilcken B., Wiley V., Sim K.G., Carpentier K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr 2001, 138:581-584.
    • (2001) J Pediatr , vol.138 , pp. 581-584
    • Wilcken, B.1    Wiley, V.2    Sim, K.G.3    Carpentier, K.4
  • 5
    • 0032746479 scopus 로고    scopus 로고
    • Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigr ees with primary systemic carnitine deficiency
    • Koizumi A., Nozaki J., Ohura T., Kayo T., Wada Y., Nezu J., et al. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigr ees with primary systemic carnitine deficiency. Hum Mol Genet 1999, 8:2247-2254.
    • (1999) Hum Mol Genet , vol.8 , pp. 2247-2254
    • Koizumi, A.1    Nozaki, J.2    Ohura, T.3    Kayo, T.4    Wada, Y.5    Nezu, J.6
  • 6
    • 3342882804 scopus 로고    scopus 로고
    • Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
    • Kinali M., Olpin S.E., Clayton P.T., Daubeney P.E.F., Mercuri E., Manzur A.Y., et al. Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. Eur J Paediatr Neurol 2004, 8:217-219.
    • (2004) Eur J Paediatr Neurol , vol.8 , pp. 217-219
    • Kinali, M.1    Olpin, S.E.2    Clayton, P.T.3    Daubeney, P.E.F.4    Mercuri, E.5    Manzur, A.Y.6
  • 8
    • 4243325434 scopus 로고    scopus 로고
    • Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents C.
    • Lamhonwah A.M., Olpin S.E., Pollitt R.J., Vianey-Saban C., Divry P., Guffon N., Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy, et al. Am J Med Genet 2002, 111(3):271-284.
    • (2002) Am J Med Genet , vol.111 , Issue.3 , pp. 271-284
    • Lamhonwah, A.M.1    Olpin, S.E.2    Pollitt, R.J.3    Vianey-Saban, C.4    Divry, P.5    Guffon, N.6
  • 9
    • 10644250580 scopus 로고    scopus 로고
    • Carnitine deficiency disorders in children
    • Stanley C.A. Carnitine deficiency disorders in children. Ann N Y Acad Sci 2004, 1033:42-51.
    • (2004) Ann N Y Acad Sci , vol.1033 , pp. 42-51
    • Stanley, C.A.1
  • 10
    • 17644435180 scopus 로고    scopus 로고
    • Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of life
    • Boles R.G., Buck E.A., Blitzer M.G., et al. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of life. J Pediatr 1998, 132:924-933.
    • (1998) J Pediatr , vol.132 , pp. 924-933
    • Boles, R.G.1    Buck, E.A.2    Blitzer, M.G.3
  • 11
    • 0036303560 scopus 로고    scopus 로고
    • Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2
    • Xiaofei E., Wada Y., Dakeishi M., Hirasawa F., Murata K., Masuda H., et al. Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2. J Gerontol A Biol Sci Med Sci 2002, 57:B270-B278.
    • (2002) J Gerontol A Biol Sci Med Sci , vol.57
    • Xiaofei, E.1    Wada, Y.2    Dakeishi, M.3    Hirasawa, F.4    Murata, K.5    Masuda, H.6
  • 12
    • 34548184469 scopus 로고    scopus 로고
    • Et al. Pressure overload -induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation
    • Takahashi R., Asai T., Murakami H., Murakami R., Tsuzuki M., Numaguchi Y. et al. Pressure overload -induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation. Hypertension 2007, 50:497-502.
    • (2007) Hypertension , vol.50 , pp. 497-502
    • Takahashi, R.1    Asai, T.2    Murakami, H.3    Murakami, R.4    Tsuzuki, M.5    Numaguchi, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.