메뉴 건너뛰기




Volumn 69, Issue 11, 2011, Pages 1177-1180

Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy);Aspekty kliniczne i diagnostyczne zespołu Bartha (kardiomiopatia sprzȩżona z chromosomem X)

Author keywords

[No Author keywords available]

Indexed keywords

BARTH SYNDROME; CLINICAL ASSESSMENT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; REVIEW;

EID: 81555195447     PISSN: 00229032     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (30)
  • 1
    • 0020974404 scopus 로고
    • An X-linked mitochrondrial 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: 327-355. (Pubitemid 14176259)
    • (1983) Journal of the Neurological Sciences , vol.62 , Issue.1-3 , pp. 327-355
    • Barth, P.G.1    Scholte, H.R.2    Berden, J.A.3
  • 4
    • 77957344279 scopus 로고    scopus 로고
    • Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth
    • Steward CG, Newburry-Ecob RA, Hastings R et al. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn, 2010; 30: 979-976.
    • (2010) Prenat Diagn , vol.30 , pp. 979-1976
    • Steward, C.G.1    Newburry-Ecob, R.A.2    Hastings, R.3
  • 5
    • 56849093626 scopus 로고    scopus 로고
    • Cardiomyopathy of unknown etiology: Barth syndrome unrecognized
    • Sweeney RT, Davis GJ, Noonan JA. Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. Congenit Heart Dis, 2008; 3: 443-448.
    • (2008) Congenit Heart Dis , vol.3 , pp. 443-448
    • Sweeney, R.T.1    Davis, G.J.2    Noonan, J.A.3
  • 6
    • 33845797936 scopus 로고    scopus 로고
    • Kardiomiopatia ga̧bczasta u noworodka
    • Szulik M, Lenarczyk A, Rycaj J et al. Kardiomiopatia ga̧bczasta u noworodka. Kardiol Pol, 2006; 64: 1422-1425.
    • (2006) Kardiol Pol , vol.64 , pp. 1422-1425
    • Szulik, M.1    Lenarczyk, A.2    Rycaj, J.3
  • 8
    • 72449137691 scopus 로고    scopus 로고
    • Mitochondrial cardiolipin involved in outer-membrane protein biosynthesis: Implications for Barth syndrome
    • Gebert N, Joshi AS, Kutik S et al. Mitochondrial cardiolipin involved in outer-membrane protein biosynthesis: implications for Barth syndrome. Curr Biol, 2009; 19: 2133-2139.
    • (2009) Curr Biol , vol.19 , pp. 2133-2139
    • Gebert, N.1    Joshi, A.S.2    Kutik, S.3
  • 9
    • 70349495692 scopus 로고    scopus 로고
    • A new look at cardiolipin
    • Editorial
    • Editorial. A new look at cardiolipin. Bioch Biophys Acta, 2009; 1788: 1997-2002.
    • (2009) Bioch Biophys Acta , vol.1788 , pp. 1997-2002
  • 12
    • 77953806512 scopus 로고    scopus 로고
    • Oxidative stress-dependent p66She phosphorylation in skin fibroblasts of children with mitochondrial disorders
    • Lebiedzińska M, Karkucinska-Wieckowska A, Giorgi C et al. Oxidative stress-dependent p66She phosphorylation in skin fibroblasts of children with mitochondrial disorders. Biochem Biophys Acta, 2010; 1797: 952-960.
    • (2010) Biochem Biophys Acta , vol.1797 , pp. 952-960
    • Lebiedzińska, M.1    Karkucinska-Wieckowska, A.2    Giorgi, C.3
  • 13
    • 27644437287 scopus 로고    scopus 로고
    • Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: Implications for Barth syndrome
    • DOI 10.1091/mbc.E05-03-0256
    • Brandner K, Mick DU, Frazier AE et al. Taz1, and outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth syndrome. Mol Biol Cell, 2005; 16: 5202-5214. (Pubitemid 41566832)
    • (2005) Molecular Biology of the Cell , vol.16 , Issue.11 , pp. 5202-5214
    • Brandner, K.1    Mick, D.U.2    Frazier, A.E.3    Taylor, R.D.4    Meisinger, C.5    Rehling, P.6
  • 14
    • 70349557331 scopus 로고    scopus 로고
    • Cardiolipin, a critical determinant of mitochondrial carrier protein assembly and function
    • Claypool SM. Cardiolipin, a critical determinant of mitochondrial carrier protein assembly and function. Bioch Biophys Acta, 2009; 1788: 2059-2068.
    • (2009) Bioch Biophys Acta , vol.1788 , pp. 2059-2068
    • Claypool, S.M.1
  • 15
    • 33746327466 scopus 로고    scopus 로고
    • Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients
    • DOI 10.1016/j.jmb.2006.06.057, PII S0022283606007959
    • McKenzie M, Lazarou M, Thorburn DR, Ryan MT. Mitochondrial respiratory chain supercomplexes are destabilized in Barth syndrome patients. J Mol Biol, 2006; 361: 462-469. (Pubitemid 44118343)
    • (2006) Journal of Molecular Biology , vol.361 , Issue.3 , pp. 462-469
    • McKenzie, M.1    Lazarou, M.2    Thorburn, D.R.3    Ryan, M.T.4
  • 16
    • 0029016422 scopus 로고
    • Mitochondrial complex deficiencies in a male with cardiomyopathy and 3 methylglutaconic aciduria
    • Besley GTN, Lendon M, Broadhead DM et al. Mitochondrial complex deficiencies in a male with cardiomyopathy and 3 methylglutaconic aciduria. J Inher Metab Dis, 1995; 18: 221-223.
    • (1995) J Inher Metab Dis , vol.18 , pp. 221-223
    • Besley, G.T.N.1    Lendon, M.2    Broadhead, D.M.3
  • 19
    • 55049120285 scopus 로고    scopus 로고
    • TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
    • Cižková A, Stranecký V, Mayr AM et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet, 2008; 40: 1288-1290.
    • (2008) Nat Genet , vol.40 , pp. 1288-1290
    • Cižková, A.1    Stranecký, V.2    Mayr, A.M.3
  • 21
    • 46149090364 scopus 로고    scopus 로고
    • Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and literature review
    • Ting-Yu Y, Wuh-Liang H, Yin-Hsiu C et al. Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and literature review. Eur J Pediatr, 2008; 167: 941-944.
    • (2008) Eur J Pediatr , vol.167 , pp. 941-944
    • Ting-Yu, Y.1    Wuh-Liang, H.2    Yin-Hsiu, C.3
  • 24
    • 0025951140 scopus 로고
    • X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
    • Kelley RI, Cheatham JP, Clark BJ et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr, 1991; 119: 738-747.
    • (1991) J Pediatr , vol.119 , pp. 738-747
    • Kelley, R.I.1    Cheatham, J.P.2    Clark, B.J.3
  • 27
    • 53549088890 scopus 로고    scopus 로고
    • Cardiomyopathy in a child with neutropenia and motor delay
    • McCanta AC, Chang AC, Weiner K. Cardiomyopathy in a child with neutropenia and motor delay. Curr Opin Pediatr, 2008; 20: 605-607.
    • (2008) Curr Opin Pediatr , vol.20 , pp. 605-607
    • McCanta, A.C.1    Chang, A.C.2    Weiner, K.3
  • 28
    • 61849141218 scopus 로고    scopus 로고
    • Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
    • Houtkooper RH, Rodenburg RJ, Thiels C et al. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem, 2009; 287: 230-237.
    • (2009) Anal Biochem , vol.287 , pp. 230-237
    • Houtkooper, R.H.1    Rodenburg, R.J.2    Thiels, C.3
  • 30
    • 34147111367 scopus 로고    scopus 로고
    • Successful cardiac transplantation in Barth syndrome - Single-centre experience of four patients
    • DOI 10.1111/j.1399-3046.2006.00629.x
    • Mangat J, Lunnon-Wood T, Rees P et al. Succesful cardiac transplantation in Barth syndrome - single-centre experience of four patients. Pediatr Transpl, 2007; 11: 327-331. (Pubitemid 46570138)
    • (2007) Pediatric Transplantation , vol.11 , Issue.3 , pp. 327-331
    • Mangat, J.1    Lunnon-Wood, T.2    Rees, P.3    Elliott, M.4    Burch, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.