Disease: X-linked adrenoleukodystrophy
- A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1
- A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe
- 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 Phase 1 Study of Oral Vitamin D(3) in Boys and Young Men With X-Linked Adrenoleukodystrophy
- A Phase 1 Study of Oral Vitamin D<sub>3</sub> in Boys and Young Men With X-Linked Adrenoleukodystrophy
- 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 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy
- 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
- 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
- Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1
- 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
- Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation
- Cerebral X-linked Adrenoleukodystrophy Presenting As Enlarging Cavum Vergae Cyst: A Case Report
- Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study
- Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)
- Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series
- Comprehensive Care to Improve Quality of Life: A Case of Childhood Adrenoleukodystrophy
- Considering the myelin-centric hypothesis: insights from Budka's historical adrenomyeloneuropathy case report
- Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
- Correction to "Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy"
- Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
- Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <em>POLR3A</em>, <em>POLR3B</em> and <em>POLR1C</em>
- Current Strategies for Increasing Knock-In Efficiency in CRISPR/Cas9-Based Approaches
- Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development
- Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
- Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders
- Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy
- Efficacy of HDAC Inhibitors in Driving Peroxisomal β-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders
- Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study
- Erucic Acid: A Possible Therapeutic Agent for Neurodegenerative Diseases
- 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 their family members: a qualitative systematic review
- Exploratory study of autophagy inducer sirolimus for childhood cerebral adrenoleukodystrophy
- Gene and Cellular Therapies for Leukodystrophies
- Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care
- Gene therapy for neurodegenerative disorders in children: dreams and realities
- 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
- Gross Motor Function in Pediatric Onset <em>TUBB4A</em>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <em>TUBB4A</em>
- Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy
- Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
- 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
- Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation
- Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018
- Increased neurotoxicity of high-density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very-long-chain fatty acid transporter Abcd1
- Initial frontal lobe involvement in adult cerebral X-linked 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
- 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
- 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
- Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
- Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy
- Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome <em>c</em> oxidase deficiency: a case report
- Newborn screening for adrenoleukodystrophy: International experiences and challenges
- 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
- 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)
- Peroxisomal defects in microglial cells induce a disease-associated microglial signature
- 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
- Progress in leukodystrophies with zebrafish
- Refsum Disease
- Review of the potential pharmacological role of erucic acid: a monounsaturated omega-9 fatty acid
- Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans
- Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy
- System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain
- 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 Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
- The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy
- The impacts of adrenoleukodystrophy newborn screening on the evaluation of adrenal dysfunction in male children: An integrative literature review
- 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
- Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition
- VUS: Variant of uncertain significance or very unclear situation?
- X-linked adrenoleukodystrophy and primary adrenal insufficiency
- X-linked Adrenoleukodystrophy in A Child
- X-linked cerebral adrenoleukodystrophy
- Zellweger Spectrum Disorder