Disease: Adrenoleukodystrophy- autosomal- neonatal form
- A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease
- A case of Zellweger syndrome caused by PEX13 gene variation
- A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
- 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 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
- 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
- Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
- 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
- Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
- D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature
- 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
- 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 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
- Experience on the long-term use of canakinumab in mevalonate kinase deficiency: A case series
- Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review
- Fatty Acid Metabolism in Peroxisomes and Related Disorders
- Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata
- 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 Transplantation for Storage Disorders: Present Status
- 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
- Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
- 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
- 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
- Liver Transplantation for Zellweger Syndrome
- Long-term safety and effectiveness of canakinumab in patients with monogenic autoinflammatory diseases: results from the interim analysis of the RELIANCE registry
- Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype
- 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
- Molecular and cellular consequences of mevalonate kinase deficiency
- Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy
- Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females
- 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
- 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
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
- Peroxisomal hereditary diseases
- Peroxisomal hereditary metabolic disorders
- 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
- 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
- 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 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
- 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