Results 41 to 50 of about 14,971 (151)
Journal of Clinical Laboratory Analysis, EarlyView.Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas +9 more
wiley +1 more source
Adrenoleukodystrophy. literature review and case study.
, 2023 X–linked adrenoleukodystrophy is a rare peroxisomal disease inherited with X chromosome. The disease damages tissues in the brain and adrenal glands. X–linked adrenoleukodystrophy is caused by a mutation in the ABCD1 gene which impairs a degradation of ...
Regelskytė, Laura,
core
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
International Journal of Neonatal Screening, 2021 We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses ...
Nobuyuki Shimozawa +7 more
doaj +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1236-1248, June 2026.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Spinal cord trauma and the molecular point of no return [PDF]
, 2012 A mechanical trauma to the spinal cord can be followed by the development of irreversible and progressive neurodegeneration, as opposed to a temporary or partially reversible neurological damage.
Yip, PK +5 more
core +1 more source
Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy
Annals of Movement Disorders, 2019 X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy.
Sindhu D Mallikarjuna +3 more
doaj +1 more source
Cells, 2022 The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids.
Eric J. Mallack +3 more
doaj +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1206-1221, June 2026.ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman +9 more
wiley +1 more source
MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity
JIMD Reports, 2022 Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk +7 more
doaj +1 more source