{"id":1270,"date":"2021-10-21T17:39:33","date_gmt":"2021-10-21T17:39:33","guid":{"rendered":"https:\/\/barthsyndrome.ca\/?page_id=1270"},"modified":"2021-11-19T21:16:56","modified_gmt":"2021-11-19T21:16:56","slug":"references","status":"publish","type":"page","link":"https:\/\/barthsyndrome.ca\/barth-syndrome-overview\/references\/","title":{"rendered":"References"},"content":{"rendered":"

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References<\/h2><\/div><\/div><\/div><\/div><\/div>
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  1. Barth, P G; Scholte, J A; Berden, J A; Van dKVM JM; Luyt-Houwen, IEM; Van’t Veer-Korthof, ET; Van der Harten, JJ; Sobotka-Plojhar, MA. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes<\/a><\/u>. J. Neurol. Sci. 62: 327-355, 1983.\n<\/li>\n
  2. Orstavik, KH.; Orstavik, RE; Naumova, AK; D’Adamo, P; Gedeon, A; Bolhuis, PA; Barth, PG; Toniolo, D. X chromosome inactivation in carriers of Barth syndrome<\/a><\/u>. Am. J. Hum. Genet. 63: 1457-1463, 1998.\n<\/li>\n
  3. Kelley, RI; Cheatham, JP; Clark, BJ; Nigro, MA; Powell, BR; Sherwood, GW; Sladky, JT; Swisher, WP. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria<\/a><\/u>. J. Pediat. 119: 738-747, 1991.\n<\/li>\n
  4. Christodoulou, J.; McInnes, RR.; Jay, V; Wilson, G; Becker, LE; Lehotay, DC; Platt, BA; Bridge, PJ; Robinson, BH; Clarke, JT. Barth syndrome: clinical observations and genetic linkage studies<\/a><\/u>. Am. J. Med. Genet. 50: 255-264, 1994.\n<\/li>\n
  5. Barth PG; Wanders RJ; Vreken P; Janssen EA; Lam J; Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)<\/a><\/u>. J Inherit Metab Dis 22:555 \u2013 567, 1999.\n<\/li>\n
  6. Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, et al. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals<\/a><\/u>. Am J Med Genet ;72(3):257-65, 1997.\n<\/li>\n
  7. Cardonick EH, Kuhlman K, Ganz E, Pagotto LT. Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome<\/a><\/u>. Prenat Diagn ;17(10):983-8, 1997.\n<\/li>\n
  8. Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome<\/a><\/u>. Am J Hum Genet; 61(4):868-72,1997.\n<\/li>\n
  9. Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome<\/a><\/u>. Circulation; 103(9):1256-63, 2001.\n<\/li>\n
  10. Kelley, RI. Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography\/mass spectrometry<\/a><\/u>. Clin Chim Acta 220(2): 157 -64, 1993.\n<\/li>\n
  11. Gibson, KM: Elpeleg, ON; Kakobs, C; Costeff, H; Kelley, RI. Multiple syndromes of 3-methylglutaconic aciduria<\/a><\/u>. Pedatr Neurol 9 (2): 120 \u2013 3, 1993.\n<\/li>\n
  12. Mazzocco, MM; Kelley, RI. Preliminary evidence for cognitive phenotype in Barth syndrome<\/a><\/u>. Am J Med Genet 102: 372 \u2013 378, 2001.\n<\/li>\n
  13. Schlame, M.; Towbin, JA; Heerdt, PM; Jehle, R; DiMauro, S; Blanck, TJJ. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome<\/a><\/u>. Ann. Neurol. 51: 634-637, 2002.\n<\/li>\n
  14. Vreken, P; Valianpour, F; Nijtmans, LG; Grivell, LA; Plecko, B; Wanders, RJA; Barth, PG. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome<\/a><\/u>. Biochem. Biophys. Res. Commun. 279: 378-382, 2000.<\/li>\n<\/ol>\n<\/div><\/div><\/div><\/div><\/div>
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