Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort-Reference-Cited by-同舟云学术

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Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort

Published:2022-01-08 Issue:5 Volume:43 Page:3255-3263
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Mao Chenhui,Li Jie,Huang Xinying,Wang Jie,Chu Shanshan,Zhang Yao,Dong Liling,Liu Caiyan,Lu Lin,Qiu Ling,Chen Wei,Peng Bin,Cui Liying,Gao Jing^ORCID

Funder

National key research and development program of China

CAMS Innovation fund for medical sciences

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-021-05859-y.pdf

Reference26 articles.

1. Kemp S, Berger J, Aubourg P (2012) X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta 1822:1465–1474. https://doi.org/10.1016/j.bbadis.2012.03.012

2. Engelen M, Kemp S, Poll-The BT (2014) X-linked adrenoleukodystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep 14:486. https://doi.org/10.1007/s11910-014-0486-0

3. 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

4. Kemp S, Wanders R (2010) Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol 20:831–837. https://doi.org/10.1111/j.1750-3639.2010.00391.x

5. Eichler F, Duncan C, Musolino PL et al (2017) Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med 377:1630–1638. https://doi.org/10.1056/NEJMoa1700554

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1. Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation;European Radiology Experimental;2023-10-02

2. Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy;Acta Neurologica Belgica;2023-05-29

3. The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients;Brain;2022-11-16

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