• A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe
• A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report
• A historical look using virtual microscopy: the first case report of adrenomyeloneuropathy (AMN)
• A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
• A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis
• A patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report
• 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 po
• 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 pop
• ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis
• Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
• Accelerated Course of Cerebral Adrenoleukodystrophy After Coronavirus Disease 2019 Infection
• Adrenal insufficiency as part of X-linked adrenoleukodystrophy
• Adrenoleukodystrophy
• Adrenoleukodystrophy-Like Presentation of MOG-Antibody-Associated Demyelination
• Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review
• Allogeneic stem cell transplantation for inherited metabolic disorders: 35 years' experience at a single institution
• An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy
• Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy
• Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening
• Balint syndrome as the presenting manifestation of adrenoleukodystrophy
• Biallelic pathogenic variants in <em>POLR3D</em> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
• Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
• 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
• Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation
• Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening
• Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)
• Considering the myelin-centric hypothesis: insights from Budka's historical adrenomyeloneuropathy case report
• 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
• Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
• Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive Outcomes
• Easily misdiagnosed X-linked adrenoleukodystrophy
• Efficacy of HDAC Inhibitors in Driving Peroxisomal β-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders
• Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India
• Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review
• Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and their family members: a qualitative systematic review
• Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
• Gene and Cellular Therapies for Leukodystrophies
• Gene therapy for CNS disorders: modalities, delivery and translational challenges
• Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care
• Gene therapy for neurodegenerative disorders in children: dreams and realities
• Generating human AMN and cALD iPSC-derived astrocytes with potential for modeling X-linked adrenoleukodystrophy phenotypes
• Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy
• Generation of induced pluripotent stem line (MIPTi001-A) derived from patient with X-linked adrenoleukodystrophy (X-ALD)
• Genetics, X-Linked Inheritance
• Glial Origins of Inherited White Matter Disorders
• Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy
• Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy
• Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy
• IDH-mutant astrocytoma arising from a demyelinating plaque in a child with X-linked adrenoleukodystrophy
• Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
• Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation
• In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model
• Increased neurotoxicity of high-density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very-long-chain fatty acid transporter Abcd1
• Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study
• International Society for Cell &amp; Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced
• International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy
• Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review
• Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation
• IPSC-Derived Astrocytes to Model Neuroinflammatory and Metabolic Responses in X-linked Adrenoleukodystrophy
• Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy
• Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
• Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease
• Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy
• Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype
• Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy
• Multiple System Atrophy-like Phenotype Accompanied by Prominent Weight Loss and Fatigue
• Nephrotic syndrome and adrenoleukodystrophy in a 5-year-old boy
• Newborn screening for adrenoleukodystrophy: International experiences and challenges
• Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
• Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
• 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
• Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms
• Patient with adrenal insufficiency due to a <em>de novo</em> mutation in the <em>NR0B1</em> gene
• Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
• Phase I clinical trial of intracerebral injection of lentiviral-ABCD1 for the treatment of cerebral adrenoleukodystrophy
• Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders
• Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
• Preimplantation Genetic Testing Inhibits the Transmission of Pathogenic Variants Associated With Cerebral White Matter Disease
• Progress in leukodystrophies with zebrafish
• Refsum Disease
• Review of the potential pharmacological role of erucic acid: a monounsaturated omega-9 fatty acid
• Role of ACSBG1 in brain lipid metabolism and X-linked adrenoleukodystrophy pathogenesis: Insights from a knockout mouse model
• Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans
• Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion
• System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain
• Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy
• The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases
• The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature
• The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy
• The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
• The Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mouse and Human
• The subset of peroxisomal tail-anchored proteins do not reach peroxisomes via ER, instead mitochondria can be involved
• Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine
• Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy
• X-linked adrenoleukodystrophy and primary adrenal insufficiency
• X-linked Adrenoleukodystrophy in A Child
• X-linked cerebral adrenoleukodystrophy
• Zellweger Spectrum Disorder