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Volumn 17, Issue 10, 1997, Pages 983-988

Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome

Author keywords

3 methylglutaconic aciduria; Barth syndrome; Cardiomyopathy; Neutropenia

Indexed keywords

3 METHYLGLUTACONIC ACID;

EID: 0030767193     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199710)17:10<983::AID-PD174>3.0.CO;2-0     Document Type: Article
Times cited : (14)

References (12)
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    • Bolhuis, P.A., Hensels, G.W., Hulsebos, T.J.M., Bass, F., Barth, P.G. (1991). Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondia (Barth syndrome) to Xq28, Am. J. Hum. Genet., 48, 481-485.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 481-485
    • Bolhuis, P.A.1    Hensels, G.W.2    Hulsebos, T.J.M.3    Bass, F.4    Barth, P.G.5
  • 7
    • 0023683742 scopus 로고
    • Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism
    • Ino, T., Sherwood, W.G., Cutz, E., Benson, L.N., Rose, V., Freedom, R.M. (1988). Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism, J. Pediatr., 113, 511-514.
    • (1988) J. Pediatr. , vol.113 , pp. 511-514
    • Ino, T.1    Sherwood, W.G.2    Cutz, E.3    Benson, L.N.4    Rose, V.5    Freedom, R.M.6
  • 8
    • 0027378959 scopus 로고
    • Quantification of 3-methylglutaconic acid in urine plasma and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry
    • Kelley, R.I. (1993). Quantification of 3-methylglutaconic acid in urine plasma and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry, Clin. Chim. Acta, 220, 157-164.
    • (1993) Clin. Chim. Acta , vol.220 , pp. 157-164
    • Kelley, R.I.1
  • 10
    • 0003436550 scopus 로고
    • John Hopkins University Press, Cardioskeletal myopathy with neutropenia and abnormal mitochondria Barth syndrome; endocardial fibroelastosis-2 EFE2; 3-methylglutaconic aciduria, type II; MGA, type II. #302060, #250950
    • McKusick, V.A. (1992). Mendelian Inheritance in Man, 10th edn, John Hopkins University Press, Cardioskeletal myopathy with neutropenia and abnormal mitochondria Barth syndrome; endocardial fibroelastosis-2 EFE2; 3-methylglutaconic aciduria, type II; MGA, type II. #302060, #250950.
    • (1992) Mendelian Inheritance in Man, 10th Edn
    • McKusick, V.A.1
  • 11
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    • An X-linked recessive cardiomyopathy with abnormal mitochondria
    • Neustein, H.B., Lurie, P.R., Dahms, B., Takahashi, M. (1979). An X-linked recessive cardiomyopathy with abnormal mitochondria, Pediatrics, 64, 24-29.
    • (1979) Pediatrics , vol.64 , pp. 24-29
    • Neustein, H.B.1    Lurie, P.R.2    Dahms, B.3    Takahashi, M.4
  • 12
    • 0027414356 scopus 로고
    • Possible X-linked congenital mitochondrial cardiomyopathy in three families
    • Orstavik, K.H., Skjorten, F., Hellebostad, M., Haga, P., Langslet, A. (1993). Possible X-linked congenital mitochondrial cardiomyopathy in three families, J. Med. Genet., 30, 269-272.
    • (1993) J. Med. Genet. , vol.30 , pp. 269-272
    • Orstavik, K.H.1    Skjorten, F.2    Hellebostad, M.3    Haga, P.4    Langslet, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.