*Publications that acknowledge financial support contributed by Barth Syndrome Foundation (BSF) and/or BSF affiliates.

▼Publications that acknowledge biological samples (and/or information) from Barth syndrome families, the Barth Syndrome Registry and Repository (BRR), and/or BSF affiliates.

For the most up-to-date information, including a full Barth syndrome (BTHS) bibliography and links to PubMed abstracts, please view our Bibliography.

2016

Variable cardiac features but reduced functional exercise capacity (decreased walk times and muscle strength) in 42 BTHS individuals.

• Thompson WR, DeCroes B, McClellan R, Rubens J, Vaz FM, Kristaponis K, Avramopoulos D, Vernon HJ. New targets for monitoring and therapy in Barth syndrome. Genet Med. 2016 Oct;18(10):1001-10. doi: 10.1038/gim.2015.204. Epub 2016 Feb 4. (PubMed - Abstract)▼

2015

Feeding problems found in at least 50% to 70% of BTHS individuals and often present before six months of age.

• Reynolds S, Kreider CM, Meeley L, Bendixen RM. Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth syndrome. J Rare Disorders. March;3(1):1-9. (PubMed - Open Access)▼

Pain observed to be prevalent in individuals with BTHS.

• Taylor D, Brady JE, Li G, Sonty N, Saroyan JM. Characterization of pain in patients with Barth syndrome. Children’s Health Care, February 2015. (Abstract)▼

2014

Comprehensive review article about BTHS.

• Ferreira C, Thompson WR, Vernon H. Barth syndrome. GeneReviews. October 9, 2014. (PubMed - OpenAccess)▼

Moderate CL deficiency associated with milder BTHS phenotype.

• Bowron A, Honeychurch J, Williams M, Tsai-Goodman B, Clayton N, Jones L, Shortland GJ, Qureshi SA, Heales SJ, Steward CG. Barth syndrome without tetralinoleoyl cardiolipin deficiency: A possible ameliorated phenotype. J Inherit Metab Dis. 2015 Mar;38(2):279-86. doi: 10.1007/s10545-014-9747-y. Epub 2014 Aug 12. (PubMed - OpenAccess)*▼

2013

Comprehensive review article about BTHS.

• Clarke SLN, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases 2013, 8:23. (Open Access)*▼

Summary of clinically important information about BTHS.

• Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013 Aug;163(3):198-205. Epub 2013 Jul 10. (PubMed - Open Access)▼

Report from French historical experiences with BTHS individuals and discussion of how good medical practices contributed to survival.

• Rigaud C, Lebre A, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant M, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J. Natural history of Barth syndrome: A national cohort study of 22 patients. Orphanet J Rare Dis. 2013 May 8;8:70. (PubMed - Open Access)*▼

2012

Review article detailing longitudinal data collected, including growth curves, from Barth Syndrome Registry and Repository.

• Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Nov;158A(11):2726-32. Epub 2012 Oct 8. (PubMed - Open Access)*▼

2011

Severe exercise intolerance in BTHS due to cardiac and skeletal muscle impairments consistent with cardiac and skeletal mitochondrial myopathy.

• Spencer CT, Byrne BJ, Bryant RM, Margossian R, Maisenbacher M, Breitenger P, Benni PB, Redfearn S, Marcus E, Cade WT.  Impaired cardiac reserve and severely diminished skeletal muscle oxygen utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol. 2011 Nov;301(5):H2122-9. Epub 2011 Aug 26. (PubMed - Open Access)*▼

2010

First conclusive demonstration that BTHS can cause male fetal loss and stillbirth in multiple families.

• 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. Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn. 2010 Oct;30(10):970-6. (PubMed - Open Access)*▼

2009

Common childhood BTHS facial features include tall and broad forehead, round face, prominent chin, full cheeks, large ears and deep-set eyes. Gynoid stature and fat distribution often develop in late puberty.

• Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. Dysmorphology of Barth syndrome. Clin Dysmorphol. 2009 Oct;18(4):185-7. (PubMed - Abstract)*▼

2007

Successful cardiac transplantation in BTHS, also emphasizing the importance of accurate diagnosis for post-transplant BTHS patient care.

• Mangat J, Lunnon-Wood T, Rees P, Elliott M, Burch M. Successful cardiac transplantation in Barth syndrome: Sincle-center experience of four patients. Pedatr Transplant 2007 May;11(3):327-31. (PubMed - Abstract)