Page 26 - Read Online

Kenneson et al. J Transl Genet Genom 2024;8:285-97 https://dx.doi.org/10.20517/jtgg.2024.22 Page 297

12. Vaz FM, van Lenthe H, Vervaart MAT, et al. An improved functional assay in blood spot to diagnose Barth syndrome using the
monolysocardiolipin/cardiolipin ratio. J Inherit Metab Dis 2022;45:29-37. DOI PubMed PMC
13. Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil
leucocytes. J Neurol SCI 1983;62:327-355. DOI PubMed
14. Kelley RI, Cheatham JP, Clark BJ, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-
methylglutaconic aciduria. J Pediatr-US 1991;119:738-47. DOI
15. Hornby B, Thompson WR, Almuqbil M, et al. Natural history comparison study to assess the efficacy of elamipretide in patients with
Barth syndrome. Orphanet J Rare Dis 2022;17:1-9. DOI PubMed PMC
16. Roberts AE, Nixon C, Steward CG, et al. The barth syndrome registry: distinguishing disease characteristics and growth data from a
longitudinal study. Am J Med Genet A 2012;158:2726-32. DOI
17. Steward CG, Groves SJ, Taylor CT, et al. Neutropenia in Barth syndrome. characteristics, risks, and management. Curr Opin Hematol
2019;26:6-15. DOI PubMed PMC
18. A report on the externally-led patient-focused drug development meeting. Available from: https://barthsyndrome.org/newsevents/
pfddmeeting/voiceofthepatient.html. [Last accessed on 13 Sep 2024].
19. Taylor C, Rao ES, Pierre G, et al. Clinical presentation and natural history of Barth Syndrome: an overview. J Inherit Metab Dis
2022;45:7-16. DOI
20. Reynolds S. Successful management of Barth syndrome. a systematic review highlighting the importance of a flexible and
multidisciplinary approach. J Multidiscip Health 2015;8:345-58. DOI PubMed PMC
21. Lontok E, Milligan E, Bowen VM, McCurdy KR. Barth syndrome foundation. From humble beginnings to becoming an integral
partner. J Inherit Metab Dis 2022;45:3-6. DOI PubMed
22. Barth syndrome registry and repository. Available from: https://barthsyndromeregistry.patientcrossroads.org. [Last accessed on 13 Sep
2024].
23. Mazar I, Stokes J, Ollis S, et al. Understanding the life experience of Barth syndrome from the perspective of adults. a qualitative one-
on-one interview study. Orphanet J Rare Dis 2019;14:1-8. DOI PubMed PMC
24. PROMIS Fatigue Scoring Manual. Available from: https://www.fda.gov/media/137977/download [Last accessed on 13 Sep 2024].
25. Kang SL, Forsey J, Dudley D, Steward CG, Tsai-Goodman B. Clinical characteristics and outcomes of cardiomyopathy in Barth
syndrome: the UK experience. Pediatric Cardiology 2016;37:167-17. DOI PubMed
26. Takeda A, Sudo A, Yamada M, et al. Eponym: Barth syndrome. Eur J Pediatr 2011;170:1365-7. DOI PubMed
27. Wilson JMG, Jungner F. Principles and practice of screening for disease. Available from: https://apps.who.int/iris/handle/10665/37650
[Last accessed on 13 Sep 2024].
28. Ross LF, Clarke AJ. A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons
for the United States. Pediatric Neurology 2017;77:12-22. DOI PubMed
29. Grosse SD, Boyle CA, Kenneson A, Khoury MJ, Wilfond BS. From public health emergency to public health service. the implications
of evolving criteria for newborn screening panels. Pediatrics 2006;117:923-9. DOI PubMed
30. Gehtland LM, Bailey DB. Early Check. A north carolina research partnership. NC Med J 2019;80:59-61. DOI
31. Rigaud C, Lebre AS, Touraine R, et al. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis
2013;8:70. DOI PubMed PMC
32. Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006;118:E337-46. DOI
33. Clarke SL, Bowron A, Gonzalez IL, et al. Barth syndrome. Orphanet J Rare Dis 2013;8:23. DOI PubMed PMC
34. Palsson OS, Whitehead W, Törnblom H, Sperber AD, Simren M. Prevalence of Rome IV functional bowel disorders among adults in
the United States, Canada, and the United Kingdom. Gastroenterology 2020;158:1262-1273. DOI PubMed
35. Kelley R. Management of diarrheal illness in patients with Barth syndrome. Available from: https://www.barthsyndrome.org.uk/
userfiles/Factsheets/ManagementofDiarrheainBTHSFactSheet.pdf [Last accessed on 13 Sep 2024].
36. Filler K, Lyon D, Bennett J, et al. Association of mitochondrial dysfunction and fatigue. a review of the literature. BBA clinical
2014;1:12-23. DOI PubMed PMC
37. Olivar-Villanueva M, Ren M, Phoon CK. Neurological & psychological aspects of Barth syndrome: clinical manifestations and
potential pathogenic mechanisms. Mitochondrion 2021;61:188-95. DOI PubMed
38. Kim AY, Vernon H, Manuel R, Almuqbil M, Hornby B. Quality of life in Barth syndrome. Ther Adv Rare Dis
2022;3:26330040221093743. DOI PubMed PMC
39. Reynolds S, Babson I, Daw E. A qualitative investigation of fatigue & its daily impacts as perceived by individuals with Barth
syndrome & their families. Am J Occup Ther 2023;77(Supplement 2):7711510338p1. DOI
40. Thompson R, Jefferies J, Wang S, et al. Current and future treatment approaches for Barth syndrome. J Inherit Metab Dis 2021;45:1.
DOI
41. Suzuki-Hatano S, Saha M, Rizzo SA, et al. AAV-mediated TAZ gene replacement restores mitochondrial and cardioskeletal function
in Barth syndrome. Human Gene Therapy 2019;30:139-54. DOI PubMed PMC
42. Wang S, Li Y, Xu Y, et al. AAV gene therapy prevents and reverse heart failure in a murine knockout model of Barth syndrome.
Circulation Research 2020;126:1024-39. DOI PubMed PMC