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2024 14
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2026 10

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Page 1
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA. Eichler F, et al. N Engl J Med. 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. N Engl J Med. 2024. PMID: 39383459 Free PMC article. Clinical Trial.
BACKGROUND: Cerebral adrenoleukodystrophy is a severe form of X-linked adrenoleukodystrophy characterized by white-matter disease, loss of neurologic function, and early death. ...
BACKGROUND: Cerebral adrenoleukodystrophy is a severe form of X-linked adrenoleukodystrophy characterized by white-matt …
Easily misdiagnosed X-linked adrenoleukodystrophy.
Wang QH, Wang YY, Wang J, Liu LY, Gao J, Hao GZ, Chen C, Lu Q, Dun S, Zhang Q, Zou LP. Wang QH, et al. Ital J Pediatr. 2024 Jul 2;50(1):124. doi: 10.1186/s13052-024-01669-y. Ital J Pediatr. 2024. PMID: 38956688 Free PMC article.
BACKGROUND: Addison's disease and X-linked adrenoleukodystrophy (X-ALD) (Addison's-only) are two diseases that need to be identified. ...
BACKGROUND: Addison's disease and X-linked adrenoleukodystrophy (X-ALD) (Addison's-only) are two diseases that n …
Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.
Dong SW, Xiao LM, Sun YH, Li GH, Xie YX, Wang MW, Wang N, Chen WJ, Chen HZ. Dong SW, et al. Clin Genet. 2025 Oct;108(4):450-456. doi: 10.1111/cge.14752. Epub 2025 Apr 10. Clin Genet. 2025. PMID: 40210590
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. ...
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. ...
Seizures in childhood cerebral adrenoleukodystrophy.
Page N, Nagy AM, Eichler FS, Ream MA. Page N, et al. Dev Med Child Neurol. 2025 Nov;67(11):1494-1500. doi: 10.1111/dmcn.16321. Epub 2025 Apr 8. Dev Med Child Neurol. 2025. PMID: 40197597
METHOD: This was a retrospective observational cross-sectional study of patients with CCALD at two leukodystrophy centers between 2008 and 2024 compared to patients with X-linked adrenoleukodystrophy (X-ALD) without cerebral lesions. Patients with CCAL …
METHOD: This was a retrospective observational cross-sectional study of patients with CCALD at two leukodystrophy centers between 2008 and 2 …
Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.
Grant NR, Li Y, De La Rosa Abreu L, Becker C, Wishart BD, Nagy A, Eichler FS, Sadjadi R. Grant NR, et al. Neurology. 2025 Mar 11;104(5):e213370. doi: 10.1212/WNL.0000000000213370. Epub 2025 Feb 7. Neurology. 2025. PMID: 39919255 Free PMC article.
BACKGROUND AND OBJECTIVES: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease primarily affecting male patients. ...
BACKGROUND AND OBJECTIVES: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease primarily affecting male …
In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model.
Gopalappa R, Lee M, Kim G, Jung ES, Lee H, Hwang HY, Lee JG, Kim SJ, Yoo HJ, Sung YH, Kim D, Baek IJ, Kim HH. Gopalappa R, et al. Mol Ther. 2024 Jul 3;32(7):2190-2206. doi: 10.1016/j.ymthe.2024.05.027. Epub 2024 May 24. Mol Ther. 2024. PMID: 38796705 Free PMC article.
X-linked adrenoleukodystrophy (ALD), an inherited neurometabolic disorder caused by mutations in ABCD1, which encodes the peroxisomal ABC transporter, mainly affects the brain, spinal cord, adrenal glands, and testes. ...
X-linked adrenoleukodystrophy (ALD), an inherited neurometabolic disorder caused by mutations in ABCD1, which encodes t …
Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.
Wright MA, Demmitt-Rice C, Van Haren KP, Lund TC, Eichler F, Bonkowsky JL. Wright MA, et al. J Child Neurol. 2026 Feb;41(2):221-234. doi: 10.1177/08830738251353034. Epub 2025 Jul 23. J Child Neurol. 2026. PMID: 40696909 Free PMC article. Review.
ObjectivesMore than half of males with X-linked adrenoleukodystrophy (ALD) develop progressive, inflammatory cerebral demyelination (cerebral adrenoleukodystrophy). ...
ObjectivesMore than half of males with X-linked adrenoleukodystrophy (ALD) develop progressive, inflammatory cerebral d …
Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.
Weinhofer I, Rommer P, Berger J. Weinhofer I, et al. J Inherit Metab Dis. 2025 May;48(3):e70032. doi: 10.1002/jimd.70032. J Inherit Metab Dis. 2025. PMID: 40325881 Free PMC article. Review.
We focus on the inherited metabolic disorders X-linked adrenoleukodystrophy (X-ALD) and metachromatic leukodystrophy (MLD) which share remarkable phenotypic variability. ...
We focus on the inherited metabolic disorders X-linked adrenoleukodystrophy (X-ALD) and metachromatic leukodystr …
44 results