Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

I Weinhofer, P Rommer, A Gleiss, M Ponleitner… - …, 2023 - thelancet.com
Background X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly
progressive adrenomyeloneuropathy to severe brain demyelination and inflammation …

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

M Albersen, SL van der Beek… - Journal of Inherited …, 2023 - Wiley Online Library
Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal
insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic …

Newborn screening for adrenoleukodystrophy: International experiences and challenges

C Videbæk, L Melgaard, AM Lund… - Molecular Genetics and …, 2023 - Elsevier
X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. It has an
estimated incidence of around 1/17.000, and a variable phenotype. Following the passage …

VUS: Variant of uncertain significance or very unclear situation?

S Kemp, JJ Orsini, MS Ebberink, M Engelen… - Molecular Genetics and …, 2023 - Elsevier
The advancements in population screening, including newborn screening, enables the
identification of disease-causing variants and timely initiation of treatment. However …

Peroxisomal defects in microglial cells induce a disease-associated microglial signature

Q Raas, A Tawbeh, M Tahri-Joutey… - Frontiers in Molecular …, 2023 - frontiersin.org
Microglial cells ensure essential roles in brain homeostasis. In pathological condition,
microglia adopt a common signature, called disease-associated microglial (DAM) signature …

Newborn screening for X-linked adrenoleukodystrophy in Nebraska: initial experiences and challenges

CV Baker, A Cady Keller, R Lutz, K Eveans… - International Journal of …, 2022 - mdpi.com
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by
pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long …

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

YRJ Jaspers, HAF Yska, CG Bergner… - Communications …, 2024 - nature.com
Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by
pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in …

[HTML][HTML] Understanding Alcohol Relapse in Liver Transplant Patients With Alcohol-Related Liver Disease: A Comprehensive Review

SS Shinde, S Chakole, S Humane - Cureus, 2024 - ncbi.nlm.nih.gov
Alcohol-related liver disease (ALD) presents a significant global health concern, with liver
transplantation being a crucial intervention for patients in the advanced stages of the …

Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry

YRJ Jaspers, SW Meyer, ML Pras-Raves… - Journal of Lipid …, 2024 - ASBMB
Lipids play pivotal roles in an extensive range of metabolic and physiological processes. In
recent years, the convergence of trapped ion mobility (TIMS) and mass spectrometry (MS) …

Accelerated Course of Cerebral Adrenoleukodystrophy After Coronavirus Disease 2019 Infection

QH Wang, J Wang, YY Wang, W He, C Feng, J Gao… - Pediatric Neurology, 2024 - Elsevier
Abstract Background Coronavirus disease 2019 (COVID-19) can not only infect the
respiratory system but also affect the nervous system through the release of inflammatory …