Disease: Adrenoleukodystrophy- autosomal- neonatal form
- A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease
- A case of neonatal sweet syndrome associated with mevalonate kinase deficiency
- A case of Zellweger syndrome caused by PEX13 gene variation
- A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders
- A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
- A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype
- 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 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
- 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
- Amelioration of Phytanic Acid-Induced Neurotoxicity by Nutraceuticals: Mechanistic Insights
- Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
- Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009-2022: an interim analysis using the French JIR cohort database
- 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
- Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
- Depletion of LONP2 unmasks differential requirements for peroxisomal function between cell types and in cholesterol metabolism
- Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
- Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders
- Dietary dicarboxylic acids provide a non-storable alternative fat source that protects mice against obesity
- Disorders of fatty acid homeostasis
- Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites
- Efficacy of HDAC Inhibitors in Driving Peroxisomal beta-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders
- 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
- Generation and characterization of a zebrafish gain-of-function <em>ACOX1</em> Mitchell disease model
- 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)
- Germ cell-specific deletion of <em>Pex3</em> reveals essential roles of PEX3-dependent peroxisomes in spermiogenesis
- Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate
- Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy
- Hematopoietic Stem Cell Transplantation for Storage Disorders: Present Status
- High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
- Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?
- Identification of a novel heterozygous variant in the <em>PEX26</em> gene in an infant: a case report
- Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome
- IDH-mutant astrocytoma arising from a demyelinating plaque in a child with X-linked adrenoleukodystrophy
- Increased neurotoxicity of high-density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very-long-chain fatty acid transporter Abcd1
- Influence of intermittent fasting on autophagy in the liver
- Interaction between fatty acid oxidation and ethanol metabolism in liver
- Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation
- Investigating D-Amino Acid Oxidase Expression and Interaction Network Analyses in Pathways Associated With Cellular Stress: Implications in the Biology of Aging
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
- Liver Transplantation for Zellweger Syndrome
- Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome
- Long-term safety and effectiveness of canakinumab in patients with monogenic autoinflammatory diseases: results from the interim analysis of the RELIANCE registry
- Mevalonate kinase deficiency
- Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype
- Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy
- Newborn screening for adrenoleukodystrophy: International experiences and challenges
- 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
- Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics
- Ocular manifestations of liver disease: an important diagnostic aid
- Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
- Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model
- PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
- Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal beta-oxidation disorders
- Plasma C24:0- and C26:0-lysophosphatidylcholines are Reliable Biomarkers for the Diagnosis of Peroxisomal β-Oxidation Disorders
- PM(2.5) induced liver lipid metabolic disorders in C57BL/6J mice
- PM<sub>2.5</sub> induced liver lipid metabolic disorders in C57BL/6J mice
- PPARalpha/ACOX1 as a novel target for hepatic lipid metabolism disorders induced by per- and polyfluoroalkyl substances: An integrated approach
- PPARα/ACOX1 as a novel target for hepatic lipid metabolism disorders induced by per- and polyfluoroalkyl substances: An integrated approach
- Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA)
- Progress in leukodystrophies with zebrafish
- Protective effect of oleic acid against very long-chain fatty acid-induced apoptosis in peroxisome-deficient CHO cells
- Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes
- Refsum Disease
- Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans
- Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review
- Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate
- System-based integrated metabolomics and microRNA analysis identifies potential molecular alterations in human X-linked cerebral adrenoleukodystrophy brain
- The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature
- The effects of PPARγ inhibitor on bones and bone marrow fat in aged glucocorticoid-treated female rats
- 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 murine retinal pigment epithelium requires peroxisomal beta-oxidation to maintain lysosomal function and prevent dedifferentiation
- The murine retinal pigment epithelium requires peroxisomal β-oxidation to maintain lysosomal function and prevent dedifferentiation
- The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
- The peroxisome: an update on mysteries 3.0
- Tissue-specific roles of peroxisomes revealed by expression meta-analysis
- Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review
- Two siblings with PEX11B-related peroxisome biogenesis disorder
- UPLC-Orbitrap-HRMS application for analysis of plasma sterols
- VUS: Variant of uncertain significance or very unclear situation?
- X-linked adrenoleukodystrophy and primary adrenal insufficiency
- X-linked cerebral adrenoleukodystrophy
- Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review
- Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review
- Zellweger Syndrome: A Case Report
- Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect