SEARCH

SEARCH BY CITATION

REFERENCES

  • Adwani SS, Whitehead BF, Rees PG, Morris A, Turnball DM, Elliott MJ, de Leval MR. 1997. Heart transplantation for Barth syndrome. Pediatr Cardiol 18: 143145.
  • Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IE, Van't Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA. 1983. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62: 327355.
  • Barth PG, Wanders RJ, Vreken P. 1999. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. J Pediatr 135: 273276.
  • Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. 2004. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update. Am J Med Genet Part A 126A: 349354.
  • Basso C, Wichter T, Danieli GA, Corrado D, Czarnowska E, Fontaine G, McKenna WJ, Nava A, Protonotarios N, Antoniades L, Wlodarska K, D'Alessi F, Thiene G. 2004. Arrhythmogenic right ventricular cardiomyopathy: Clinical registry and database, evaluation of therapies, pathology registry, DNA banking. Eur Heart J 25: 531534.
  • Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. 1996. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12: 385389.
  • Byrne BJ, Kishnani PS, Case LE, Merlini L, Muller-Felber W, Prasad S, van der Ploeg A. 2011. Pompe disease: Design, methodology, and early findings from the Pompe registry. Mol Genet Metab 103: 111.
  • Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG. 1999. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 135: 311315.
  • Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, Bridge PJ, Robinson BH, Clarke JT. 1994. Barth syndrome: Clinical observations and genetic linkage studies. Am J Med Genet 50: 255264.
  • Clarke JT, Giugliani R, Sunder-Plassmann G, Elliott PM, Pintos-Morell G, Hernberg-Stahl E, Malmenas M, Beck M, FOS Investigators. 2011. Impact of measures to enhance the value of observational surveys in rare diseases: The Fabry outcome survey (FOS). Value Health 14: 862866.
  • Claypool SM, Boontheung P, McCaffery JM, Loo JA, Koehler CM. 2008. The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome. Mol Biol Cell 19: 51435155.
  • Claypool SM, Whited K, Srijumnong S, Han X, Koehler CM. 2011. Barth syndrome mutations that cause tafazzin complex lability. J Cell Biol 192: 447462.
  • Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. 2009. Dysmorphology of Barth syndrome. Clin Dysmorphol 18: 185187.
  • Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. 1997. Mutation characterization and genotype–phenotype correlation in Barth syndrome. Am J Hum Genet 61: 10531058.
  • Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP. 1991. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119: 738747.
  • Klungel OH, de Boer A, Paes AH, Seidell JC, Bakker A. 1999. Cardiovascular diseases and risk factors in a population-based study in the Netherlands: Agreement between questionnaire information and medical records. Neth J Med 55: 177183.
  • Lipshultz SE, Easley KA, Orav EJ, Kaplan S, Starc TJ, Bricker JT, Lai WW, Moodie DS, Sopko G, Schluchter MD, Colan SD. 2001. Reliability of multicenter pediatric echocardiographic measurements of left ventricular structure and function: The prospective P(2)C(2) HIV study. Circulation 104: 310316.
  • Lois K, Kumar S, Williams N, Birrell L. 2011. Can self-reported height and weight be relied upon? Occup Med (Lond) 61: 590592.
  • Mazzocco MM, Henry AE, Kelly RI. 2007. Barth syndrome is associated with a cognitive phenotype. J Dev Behav Pediatr 28: 2230.
  • McKenzie M, Lazarou M, Thorburn DR, Ryan MT. 2006. Mitochondrial respiratory chain supercomplexes are destabilized in Barth syndrome patients. J Mol Biol 361: 462469.
  • Moss AJ, Schwartz PJ. 2005. 25th anniversary of the international long-QT syndrome registry: An ongoing quest to uncover the secrets of long-QT syndrome. Circulation 111: 11991201.
  • Newell SA, Girgis A, Sanson-Fisher RW, Savolainen NJ. 1999. The accuracy of self-reported health behaviors and risk factors relating to cancer and cardiovascular disease in the general population: A critical review. Am J Prev Med 17: 211229.
  • Ronghe MD, Foot AB, Martin R, Ashworth M, Steward CG. 2001. Non-Epstein–Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome. Acta Paediatr 90: 584586.
  • Saleeb SF, Margossian R, Spencer CT, Alexander ME, Smoot LB, Dorfman AL, Bergersen L, Gauvreau K, Marx GR, Colan SD. 2011. Reproducibility of echocardiographic diagnosis of left ventricular noncompaction. J Am Soc Echocardiogr 25: 194202.
  • Schlame M, Ren M. 2006. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett 580: 54505455.
  • Schlame M, Rua D, Greenberg ML. 2000. The biosynthesis and functional role of cardiolipin. Prog Lipid Res 39: 257288.
  • Schlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJ. 2002. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 51: 634637.
  • Sluysmans T, Colan SD. 2005. Theoretical and empirical derivation of cardiovascular allometric relationships in children. J Appl Physiol 99: 445457.
  • Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM. 2005. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol 26: 632637.
  • Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. 2006. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118: e337e346.
  • Spencer CT, Byrne BJ, Bryant RM, Margossian R, Maisenbacher M, Breitenger P, Benni PB, Redfearn S, Marcus E, Cade WT. 2011. Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol 301: H2122H2129.
  • Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P. 2010. Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn 30: 970976.
  • Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJ, Barth PG. 2000. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 279: 378382.
  • Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, Lipshultz SE. 2010. The pediatric cardiomyopathy registry and heart failure: Key results from the first 15 years. Heart Fail Clin 6: 401413, vii.