Turk BR, Theda C, Fatemi A, Moser AB. X-linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies. Int J Dev Neurosci 2020;80:52–72
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24
Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008 Oct;17(5):424–33. doi: 10.1007/s10897-008-9169-9. Epub 2008 Sep 16. PMID: 18792771.
S Kemp, A Pujol, H R Waterham, B M van Geel, C D Boehm, G V Raymond, G R Cutting, R J Wanders, H W Moser : ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001 Dec;18(6):499–515.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodys-trophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012;7:51
Chu SS, Ye J, Zhang HW, et al. Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. World J Pediatr 2015;11(4):366–73
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, et al. Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy. Expert Opin Biol Ther 2022;22:1151–62
Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, et al. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol Genet Metab 2011;104(1–2):160–6
Borry P, Stultiens L, Nys H, et al. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006;70:374–81
Skirton H, Goldsmith L, Jackson L, Tibben A. Quality in genetic counselling for presymptomatic testing: clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet 2013;21:256–60