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Enhancing the lives and outcomes
of Canadian individuals and families
affected by Barth syndrome."


  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. J. Neurol. Sci. 62: 327-355, 1983.
  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. Am. J. Hum. Genet. 63: 1457-1463, 1998.
  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. J. Pediat. 119: 738-747, 1991.
  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. Am. J. Med. Genet. 50: 255-264, 1994.
  5. Barth PG; Wanders RJ; Vreken P; Janssen EA; Lam J; Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)J Inherit Metab Dis 22:555 – 567, 1999.
  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. Am J Med Genet ;72(3):257-65, 1997.
  7. Cardonick EH, Kuhlman K, Ganz E, Pagotto LT. Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome. Prenat Diagn ;17(10):983-8, 1997.
  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. Am J Hum Genet; 61(4):868-72,1997.
  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. Circulation; 103(9):1256-63, 2001.
  10. Kelley, RI. Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Clin Chim Acta 220(2): 157 -64, 1993.
  11. Gibson, KM: Elpeleg, ON; Kakobs, C; Costeff, H; Kelley, RI. Multiple syndromes of 3-methylglutaconic aciduria. Pedatr Neurol 9 (2): 120 – 3, 1993.
  12. Mazzocco, MM; Kelley, RI. Preliminary evidence for cognitive phenotype in Barth syndrome. Am J Med Genet 102: 372 – 378, 2001.
  13. Schlame, M.; Towbin, JA; Heerdt, PM; Jehle, R; DiMauro, S; Blanck, TJJ. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann. Neurol. 51: 634-637, 2002.
  14. Vreken, P; Valianpour, F; Nijtmans, LG; Grivell, LA; Plecko, B; Wanders, RJA; Barth, PG. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem. Biophys. Res. Commun. 279: 378-382, 2000.

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