Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-00866-x.pdf
Reference8 articles.
1. Shinnoh N, Yamada T, Yoshimura T, Furuya H, Yoshida Y, Suzuki Y, et al. Adrenoleukodystrophy: the Restoration of Peroxisomal β-Oxidaton by Transfection of Normal cDNA. Biochem Biophys Res Commun. 1999;210:830–6. https://doi.org/10.1006/bbrc.1995.1733.
2. Tsuji S, Ohno T, Miyatake T, Suzuki A, Yamakawa T. Fatty acid elongation activity in broblasts from patients with adrenoleukodystrophy (ALD). J Biochem. 1984;96:1241–7. https://doi.org/10.1093/oxfordjournals.jbchem.a134942.
3. Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, et al. EMBO Mol Med. 2010;2:90–7. https://doi.org/10.1002/emmm.201000061.
4. Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, et al. X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain. 2014;137:693–706. https://doi.org/10.1093/brain/awt361.
5. Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, et al. Natural history of a cohort of ABCD1 variant female carriers. Eur J Neurol. 2019;26:326–32. https://doi.org/10.1111/ene.13816.
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1. A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report;Heliyon;2024-08
2. Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review;Molecular Genetics & Genomic Medicine;2024-07
3. Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability;Frontiers in Neurology;2022-11-09
4. High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan;Molecular Genetics and Metabolism Reports;2022-09
5. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy;The Application of Clinical Genetics;2022-08
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