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 …
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 …
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 …
estimated incidence of around 1/17.000, and a variable phenotype. Following the passage …
VUS: Variant of uncertain significance or very unclear situation?
The advancements in population screening, including newborn screening, enables the
identification of disease-causing variants and timely initiation of treatment. However …
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 …
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 …
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 …
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 …
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) …
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 …
respiratory system but also affect the nervous system through the release of inflammatory …