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Editorial
. 2025 Jul;27(7):101425.
doi: 10.1016/j.gim.2025.101425. Epub 2025 Apr 5.

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

Affiliations
Editorial

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

Carlos A Dominguez Gonzalez et al. Genet Med. 2025 Jul.
No abstract available

Keywords: Leukodystrophy; Newborn screening; Secondary findings; Very-long-chain fatty acids; X-linked adrenoleukodystrophy.

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Conflict of interest statement

Conflict of Interest The authors declare no conflicts of interest.

References

    1. Mallack EJ, Turk BR, Yan H, et al. MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: meta-analysis and consensus guidelines. J Inherit Metab Dis. 2021;44(3):728–739. 10.1002/jimd.12356 - DOI - PMC - PubMed
    1. Mosser J, Lutz Y, Stoeckel ME, et al. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet. 1994;3(2):265–271. 10.1093/hmg/3.2.265 - DOI - PubMed
    1. Moser AB, Kreiter N, Bezman L, et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol. 1999;45(1):100–110. 10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u - DOI - PubMed
    1. Barendsen RW, Dijkstra IME, Visser WF, et al. Adrenoleukodystrophy newborn screening in the Netherlands (SCAN study): the X-factor. Front Cell Dev Biol. 2020;8:499. 10.3389/fcell.2020.00499 - DOI - PMC - PubMed
    1. Bonaventura E, Alberti L, Lucchi S, et al. Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring. Front Neurol. 2022;13:1072256. 10.3389/fneur.2022.1072256 - DOI - PMC - PubMed

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