|
| Home | Contact Us | Sitemap | Donate Now! |
|
|
Home > About Barth Syndrome > Diagnosis of Barth Syndrome
|
Diagnosis of Barth Syndrome
References
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Cardonick EH, Kuhlman K, Ganz E, Pagotto LT: Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome. Prenat Diagn ;17(10):983-8, 1997.
- 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.
- 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.
- 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.
- Gibson, KM: Elpeleg, ON; Kakobs, C; Costeff, H; Kelley, RI: Multiple syndromes of 3-methylglutaconic aciduria. Pedatr Neurol 9 (2): 120 – 3, 1993.
- Mazzocco, MM; Kelley, RI: Preliminary evidence for cognitive phenotype in Barth syndrome. Am J Med Genet 102: 372 – 378, 2001.
- 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.
- 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.
| | << Back Table of Contents | |
|
|
|