[1]
Barth P. G., Scholte H. R., Berden J. A., et al.: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983; 62: 327-355.
[2]
Barth P. G., Valianpour F., Bowen V. M., et al.: X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update. Am J Med Genet 2004; 126A: 349-354.
[3]
Clarke S., Bowron A., Gonzales I., et. al.: Barth Syndrom. Address: http:www.ojrd.com/content/8/1/23.
[4]
Zschocke J., Hoffmann G.: Vadem Metab Milupa GmbH&Co. KG, Germany 2004; 74.
[5]
Werner B., Trubicka J., Pronicka E.: Aspekty kliniczne i diagnostyczne zespołu Bartha (kardiomiopatia sprzężona z chromosomem X). Kardiologia Polska 2011; 69, 11: 1177-1180.
[6]
Steward C. G., Newburry-Ecob R. A., Hastings R., et al.: Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn 2010; 30: 979-976.
[7]
Kelley R. I., Cheatham J. P., Clark B. J., et al.: X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991; 119: 738-747.
[8]
Bione S., D’Adamo P., Maestrini E., et al.: A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996; 12: 385-389.
[9]
Cantlay A. M., Shokrollahi K., Allen J. T, et al.: Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 1999; 135: 311-315.
[10]
McKenzie M., Lazarou M., Thorburn D. R., et al.: Mitochondrial respiratory chain supercomplexes are destabilized in Barth syndrome patients. J Mol Biol 2006; 361: 462-469.
[11]
Houtkooper R. H., Rodenburg R. J., 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.