References

Adrenomyeloneuropathy masquerading as chronic myelitis

10.1001/jamaneurol.2020.0019 · ExternalCitation · doi-reference

Prognostication and biomarker potential of C26:0 lysophosphatidylcholine in adrenoleukodystrophy

10.1001/jamapediatrics.2024.6774 · ExternalCitation · doi-reference

Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes

10.1002/ana.1220 · ExternalCitation · doi-reference

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

10.1002/ana.21391 · ExternalCitation · doi-reference

Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype

10.1002/ana.410400221 · ExternalCitation · doi-reference

X-linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies

10.1002/jdn.10003 · ExternalCitation · doi-reference

Increased neurotoxicity of high-density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very-long-chain fatty acid transporter Abcd1

10.1002/jimd.12703 · ExternalCitation · doi-reference

Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell-derived astrocytes from adrenoleukodystrophy patients

10.1002/jimd.12832 · ExternalCitation · doi-reference

LC/MS lipid profiling from human serum: a new method for global lipid extraction

10.1007/s00216-014-8255-0 · ExternalCitation · doi-reference

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

10.1007/s00401-014-1378-8 · ExternalCitation · doi-reference

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

10.1007/s00401-016-1655-9 · ExternalCitation · doi-reference

A case of X-Linked adrenoleukodystrophy caused by a novel mutation with singular clinical manifestation: unilateral lower limb weakness

10.1007/s10072-024-07828-7 · ExternalCitation · doi-reference

X-linked adrenoleukodystrophy: pathogenesis and treatment

10.1007/s11910-014-0486-0 · ExternalCitation · doi-reference

Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination

10.1016/0022-510x(92)90028-j · ExternalCitation · doi-reference

Lipid metabolism and neurodegeneration: mechanistic insights and therapeutic targets

10.1016/j.arr.2026.103114 · ExternalCitation · doi-reference

Phospholipid-derived lysophospholipids in (patho)physiology

10.1016/j.atherosclerosis.2024.118569 · ExternalCitation · doi-reference

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

10.1016/j.bbadis.2015.01.005 · ExternalCitation · doi-reference

Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy

10.1016/j.bbrc.2018.11.123 · ExternalCitation · doi-reference

Pathophysiology of X-linked adrenoleukodystrophy

10.1016/j.biochi.2013.11.023 · ExternalCitation · doi-reference

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

10.1016/j.ebiom.2023.104781 · ExternalCitation · doi-reference

Mitochondrial dysfunction and impaired oxidative stress defense as potential trigger of cerebral X-linked adrenoleukodystrophy

10.1016/j.freeradbiomed.2025.10.289 · ExternalCitation · doi-reference

From lipid function to dysfunction: very long-chain fatty acids as emerging regulators of neuroinflammatory pathways

10.1016/j.isci.2026.114724 · ExternalCitation · doi-reference

Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy

10.1016/j.jbc.2026.112201 · ExternalCitation · doi-reference

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

10.1016/j.jlr.2024.100516 · ExternalCitation · doi-reference

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

10.1016/j.jlr.2024.100567 · ExternalCitation · doi-reference

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

10.1016/j.jlr.2024.100600 · ExternalCitation · doi-reference

C26:0-lysophosphatidylcholine in X-linked adrenoleukodystrophy

10.1016/j.pharmthera.2026.109070 · ExternalCitation · doi-reference

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

10.1016/j.ymgme.2004.09.015 · ExternalCitation · doi-reference

Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings

10.1016/j.ymgme.2006.05.001 · ExternalCitation · doi-reference

Newborn screening for X-linked adrenoleukodystrophy (X- ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

10.1016/j.ymgme.2009.03.010 · ExternalCitation · doi-reference

Comparison of C26:0-carnitine and C26:0- lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

10.1016/j.ymgme.2017.10.012 · ExternalCitation · doi-reference

Newborn screening for adrenoleukodystrophy: international experiences and challenges

10.1016/j.ymgme.2023.107734 · ExternalCitation · doi-reference

Lipostar, a comprehensive platform-neutral cheminformatics tool for lipidomics

10.1021/acs.analchem.7b01259 · ExternalCitation · doi-reference

Role of cardiolipins, mitochondria, and autophagy in the differentiation process activated by all-trans retinoic acid in acute promyelocytic leukemia

10.1038/s41419-021-04476-z · ExternalCitation · doi-reference

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

10.1038/s41467-021-22114-2 · ExternalCitation · doi-reference

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

10.1038/s43856-024-00605-9 · ExternalCitation · doi-reference

Lipid metabolism and neuroinflammation: what is the link?

10.1084/jem.20241232 · ExternalCitation · doi-reference

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

10.1093/brain/aws292 · ExternalCitation · doi-reference

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy

10.1093/braincomms/fcaf371 · ExternalCitation · doi-reference

Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture

10.1093/hmg/ddn066 · ExternalCitation · doi-reference

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

10.1093/hmg/ddt186 · ExternalCitation · doi-reference

Adrenoleukodystrophy in the era of newborn screening

10.1097/med.0000000000000515 · ExternalCitation · doi-reference

Fatty acid abnormality in adrenoleukodystrophy

10.1111/j.1471-4159.1976.tb04462.x · ExternalCitation · doi-reference

Lipid and fatty acid composition of brain tissue from adrenoleukodystrophy patients

10.1111/j.1471-4159.1993.tb03567.x · ExternalCitation · doi-reference

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

10.1186/1750-1172-7-51 · ExternalCitation · doi-reference

Lysophosphatidylcholine triggers TLR2- and TLR4-mediated signaling pathways but counteracts LPS-induced NO synthesis in peritoneal macrophages by inhibiting NF-κB translocation and MAPK/ERK phosphorylation

10.1371/journal.pone.0076233 · ExternalCitation · doi-reference

Multi-omic approach to identify phenotypic modifiers underlying cerebral demyelination in x-linked adrenoleukodystrophy

10.3389/fcell.2020.00520 · ExternalCitation · doi-reference

Comparison of the diagnostic performance of C26:0- Lysophosphatidylcholine and very long-chain fatty acids analysis for peroxisomal disorders

10.3389/fcell.2020.00690 · ExternalCitation · doi-reference

Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

10.3389/fneur.2024.1376447 · ExternalCitation · doi-reference

Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes

10.3389/fnmol.2025.1542938 · ExternalCitation · doi-reference

The role of oxidative stress and inflammation in X-Link adrenoleukodystrophy

10.3389/fnut.2022.864358 · ExternalCitation · doi-reference

Antioxidant response in Human X linked adrenoleukodystrophy fibroblasts

10.3390/antiox11112125 · ExternalCitation · doi-reference

Molecular biomarkers for adrenoleukodystrophy: an unmet need

10.3390/cells10123427 · ExternalCitation · doi-reference

Structure and function of the ABCD1 variant database: 20 years, 940 pathogenic variants, and 3400 cases of adrenoleukodystrophy

10.3390/cells11020283 · ExternalCitation · doi-reference

Evaluation of neurofilament light chain as a biomarker of neurodegeneration in X-linked childhood cerebral adrenoleukodystrophy

10.3390/cells11050913 · ExternalCitation · doi-reference