• 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 novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate
• 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
• Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review
• 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
• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
• 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
• Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009-2022: an interim analysis using the French JIR cohort database
• Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)
• D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature
• Depletion of LONP2 unmasks differential requirements for peroxisomal function between cell types and in cholesterol metabolism
• Developmental disruption of the mitochondrial fission gene drp-1 extends the longevity of daf-2 insulin/IGF-1 receptor mutant
• Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
• Dietary dicarboxylic acids provide a non-storable alternative fat source that protects mice against obesity
• Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive Outcomes
• 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
• Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorders
• 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
• Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
• Experience on the long-term use of canakinumab in mevalonate kinase deficiency: A case series
• Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant
• Fatty Acid Metabolism in Peroxisomes and Related Disorders
• Fluorescent fatty acid conjugates for live cell imaging of peroxisomes
• Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
• 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
• Glucose-oxygen deprivation constrains HMGCR function and Rac1 prenylation and activates the NLRP3 inflammasome in human monocytes
• 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 therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy
• Hematopoietic Stem Cell Transplantation for Storage Disorders: Present Status
• Identification of a novel heterozygous variant in the <em>PEX26</em> gene in an infant: a case report
• 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
• In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model
• Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches
• 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 ACOX1 regulates levels of circulating lipids that promote metabolic health through adipose remodeling
• 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
• Mixed coagulopathy in patient with peroxisomal disorder, Zellweger syndrome
• Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes
• Molecular and cellular consequences of mevalonate kinase deficiency
• Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy
• 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
• 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
• Ocular manifestations of liver disease: an important diagnostic aid
• Overexpression of PEX14 results in mistargeting to mitochondria, accompanied by organelle fragmentation and clustering in human embryonic kidney cells
• Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases
• Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
• Peroxisomal cholesterol metabolism regulates yap-signaling, which maintains intestinal epithelial barrier function and is altered in Crohn's disease
• Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model
• PHYH c.678+5G&gt;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
• 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
• 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
• Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy
• 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 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
• X-linked adrenoleukodystrophy and primary adrenal insufficiency
• X-linked cerebral adrenoleukodystrophy
• 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