Disease: Hyperpipecolatemia
- 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>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<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
- 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