X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

Pretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy.

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report.

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

[Status and prospects for neonatal screening of X-linked adrenoleukodystrophy].

Evolution of the lipidome uncovers early changes in adrenoleukodystrophy human cortical and spinal organoids.

Phosphatidylcholine with C26:0 moiety, a precursor of a diagnostic marker for X-ALD, is synthesized by LPLAT10/LPEAT2.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy.

Adult onset cerebral adrenoleukodystrophy: report of an atypical case.

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy.

Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.

A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP).

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.

Novel ABCD1 splice site mutation causing adult-onset X-linked adrenoleukodystrophy with predominant dysarthria.

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

Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.

Neuroregenerative Treatment With Radio Electric Asymmetric Conveyer Technology in Advanced Childhood Cerebral X-linked Adrenoleukodystrophy: Clinical Stabilization and Electroencephalographic Evidence of Cortico-Subcortical Reorganization.

Differentiating Incidental From Pathologic Brain MRI Findings in Asymptomatic Boys With X-Linked Adrenoleukodystrophy: A Multicenter Study.

An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Hypogonadism in adult males with adrenoleukodystrophy.

Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.

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

A Novel Missense Variant of the ABCD1 Gene in X-Linked Adrenoleukodystrophy in Chinese Family.

Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial.

Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry.

[Two cases of X-linked adrenoleukodystrophy presenting with Addison's disease as the initial manifestation and analysis of novel ABCD1 variants].

Peripheral nerve enlargement and hyperechogenicity in patients with X-linked adrenoleukodystrophy using high-resolution ultrasound.

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy.

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening.

Bridging Equity Gaps in Newborn Screening: Reflections on X-Linked Adrenoleukodystrophy (X-ALD) and Policy Implications for the Global South.

Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study.

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.

Teaching NeuroImage: X-Linked Adrenoleukodystrophy With Rare Temporal Pole Involvement.

Clinical Variation and Neuroimaging Patterns in Monozygotic Twins With Arrested X-Linked Adrenoleukodystrophy: A Case Report.

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.

Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis.

Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky.

Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report.

Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial.

Seizures in childhood cerebral adrenoleukodystrophy.

Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy.

Unraveling X-linked adrenoleukodystrophy in women: a rare case of central nervous system manifestations and implications for screening.

Nervonic acid, a long chain monounsaturated fatty acid, improves mitochondrial function in adrenomyeloneuropathy fibroblasts.

[A clinical case of X-linked adrenoleukodystrophy].

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.

Home-Based Rehabilitation With Frenkel's Exercises for Adrenomyeloneuropathy: A Case Report.

Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo ABCD1 gene mutation (c.1415_1416delAG, p.Gln472fs*83).

Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy: Expert commentary Marcelo Kauffman, MD, PhD.

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9.

Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.

Newborn screening and rapid genomic diagnosis of neuromuscular diseases.

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset Cerebral X-linked Adrenoleukodystrophy.

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

Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.

Primary adrenal insufficiency in children excluding congenital adrenal hyperplasia: insights from 33-year single-center experience in Tunisia.

Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.

Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.

Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study.

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.

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

Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity.

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.

Functional Recovery in a Child With Adrenoleukodystrophy Following Neuroregenerative Effects of Radio Electric Asymmetric Conveyer (REAC) Neuro-Regenerative (RGN-N) Treatment: A Detailed Case Report.

Teaching NeuroImage: Prognostication of X-Linked Adrenoleukodystrophy Based on the Loes Neuroimaging Score.

Stearoyl-CoA desaturase-1: a potential therapeutic target for neurological disorders.

From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.

Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.

Primary adrenal insufficiency: case study IN 5 tertiary hospitals.

A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets.

Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model.

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

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification.

Genetic analysis of the X-linked Adrenoleukodystrophy ABCD1 gene in Drosophila uncovers a role in Peroxisomal dynamics.

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Peroxisomal leukodystrophy.

Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report.

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.

A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report.

Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study.

Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy.

[Adrenal insufficiency as part of X-linked adrenoleukodystrophy].

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.

Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms.

Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.

Nephrotic syndrome and adrenoleukodystrophy in a 5-year-old boy.

Easily misdiagnosed X-linked adrenoleukodystrophy.

Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.

Generating human AMN and cALD iPSC-derived astrocytes with potential for modeling X-linked adrenoleukodystrophy phenotypes.

Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy.

In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model.

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

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy in a child.

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.

Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy.

Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation.

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology.

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

Current Strategies for Increasing Knock-In Efficiency in CRISPR/Cas9-Based Approaches.

IDH-mutant astrocytoma arising from a demyelinating plaque in a child with X-linked adrenoleukodystrophy.

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature.

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

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report.

Progress in leukodystrophies with zebrafish.

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review.

Generation of induced pluripotent stem line (MIPTi001-A) derived from patient with X-linked adrenoleukodystrophy (X-ALD).

Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation.

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

Efficacy of HDAC Inhibitors in Driving Peroxisomal β-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders.

IPSC-Derived Astrocytes to Model Neuroinflammatory and Metabolic Responses in X-linked Adrenoleukodystrophy.

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.

Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy.

Gene therapy for neurodegenerative disorders in children: dreams and realities.

X-linked adrenoleukodystrophy and primary adrenal insufficiency.

Gene and Cellular Therapies for Leukodystrophies.

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.

A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis.

Newborn screening for adrenoleukodystrophy: International experiences and challenges.

A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population.

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.

Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy.

Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy.

X-linked cerebral adrenoleukodystrophy.

A patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report.

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis.

Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

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

System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain.

VUS: Variant of uncertain significance or very unclear situation?

Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.

Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.

Exploratory study of autophagy inducer sirolimus for childhood cerebral adrenoleukodystrophy.

Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.

Cerebral X-linked Adrenoleukodystrophy Presenting As Enlarging Cavum Vergae Cyst: A Case Report.

Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy.

Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy.

Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.

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

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.

A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy.

Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition.

Nutritional status of children affected by X-linked adrenoleukodystrophy.

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.

Lysosomal cholesterol accumulation is commonly found in most peroxisomal disorders and reversed by 2-hydroxypropyl-β-cyclodextrin.

Effect of vitamin D supplementation on cerebral blood flow in male patients with adrenoleukodystrophy.

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population.

Computational insight into structural basis of human ELOVL1 inhibition.

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.

Self-reported quality of life in symptomatic and asymptomatic women with X-linked adrenoleukodystrophy.

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

Age and gender-specific reference intervals for a panel of lysophosphatidylcholines estimated by tandem mass spectrometry in dried blood spots.

Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness.

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.

Early recognition of patients with leukodystrophies.

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability.

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.

Diagnosis, treatment and genetic analysis of a case of skin hyperpigmentation as the only manifestation with X-linked adrenoleukodystrophy.

Structural and functional insights of the human peroxisomal ABC transporter ALDP.

An update on the diagnosis and treatment of adrenoleukodystrophy.

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts.

Detection of Characteristic Phosphatidylcholine Containing Very Long Chain Fatty Acids in Cerebrospinal Fluid from Patients with X-Linked Adrenoleukodystrophy.

Sex-specific newborn screening for X-linked adrenoleukodystrophy.

[Inborn error of metabolism and allogenic hematopoietic cell transplantation: Guidelines from the SFGM-TC].

Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.

Role of MRI in X-linked adrenoleukodystrophy-A case report.

Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.

Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry.

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.

Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.

X-linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation.

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.

The physiological functions of human peroxisomes.