The clinical spectrum of X-linked adrenoleukodystrophy: from Addison’s-only in men to middle-age neurologic manifestations in women
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s42000-021-00325-y.pdf
Reference32 articles.
1. Engelen M, Kemp S, de Visser M et al (2012) X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 7:51. https://doi.org/10.1186/1750-1172-7-51
2. Kemp S, Huffnagel I, Linthorst G et al (2016) Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol 12:606–615. https://doi.org/10.1038/nrendo.2016.90
3. Moser HW, Moser AB, Frayer KK et al (1981) Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 31:1241–1249. https://doi.org/10.1212/wnl.31.10.1241
4. Köhler W, Curiel J, Vanderver A (2018) Adulthood leukodystrophies. Nat Rev Neurol 14(2):94–105. https://doi.org/10.1038/nrneurol.2017.175
5. Wiesinger C, Eichler FS, Berger J (2015) The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet 8:109–121. https://doi.org/10.2147/TACG.S49590
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1. Easily misdiagnosed X-linked adrenoleukodystrophy;Italian Journal of Pediatrics;2024-07-02
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