• <em>PEX26</em> gene genotype-phenotype correlation in neonates with Zellweger syndrome
• A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome
• A case of Zellweger syndrome caused by PEX13 gene variation
• A Case Study Through an Audiological Perspective on a Pediatric Patient Diagnosed with Zellweger Syndrome
• A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the <em>PEX1</em> gene: a case report and literature review
• A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review
• A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder
• A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders
• A novel mutation in the <em>PEX26</em> gene in a family from Dagestan with members affected by Zellweger spectrum disorder
• A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder
• A novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate
• A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum
• Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
• Adrenoleukodystrophy
• Adrenoleukodystrophy
• An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy
• Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
• Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
• Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency
• Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review
• Cholbam and Zellweger spectrum disorders: treatment implementation and management
• Cholbam® and Zellweger spectrum disorders: treatment implementation and management
• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
• Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
• Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome
• Concurrent acute coronary and takotsubo syndrome - two in one; Commentary
• Concurrent acute coronary and Takotsubo syndrome: two in one
• Control of mitochondrial dynamics and apoptotic pathways by peroxisomes
• 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
• Cystic Diseases of the Kidneys: From Bench to Bedside
• Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression
• Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
• Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021
• Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype
• Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency
• Direct Comparison of Clinical Characteristics, Outcomes, and Risk Prediction in Patients with COVID-19 and Controls-A Prospective Cohort Study
• 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
• Early Neuroimaging in Zellweger Spectrum Disorders
• Editorial: Post-translational mechanisms involved in regulating peroxisome biogenesis, functions and organelle-crosstalk
• Expanded Carrier Screening and the Complexity of Implementation
• Four-Dimensional Flow MRI in Adult Type Christmas Tree ALCAPA With High Cardiac Output
• Generation and characterization of a zebrafish gain-of-function <em>ACOX1</em> Mitchell disease model
• Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
• Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
• Haemophagocytic lymphohistiocytosis and liver failure-induced massive hyperferritinaemia in a male COVID-19 patient
• High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
• Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities
• Identification of a novel heterozygous variant in the <em>PEX26</em> gene in an infant: a case report
• Impact of sex and gender on post-COVID-19 syndrome, Switzerland, 2020
• IMPAIRMENT OF PEROXISOME BIOGENESIS IN THE SPECTRUM OF ZELLWEGER SYNDROME (CLINICAL CASE)
• Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis
• Inverse relationship between IL-6 and sodium levels in patients with COVID-19 and other respiratory tract infections: data from the COVIVA study
• LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders
• Liver Transplantation for Zellweger Syndrome
• Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss
• Lower or Higher Oxygenation Targets for Acute Hypoxemic Respiratory Failure
• Mitochondria as emergency landing for abandoned peroxins
• Mixed coagulopathy in patient with peroxisomal disorder, Zellweger syndrome
• Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
• Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
• Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
• Novel mutation causing Zellweger syndrome
• Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics
• Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk
• Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model
• PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome
• Phaeochromocytoma-induced secondary takotsubo syndrome
• Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum
• Pipecolic Acid Quantification Using Gas Chromatography-coupled Mass Spectrometry
• Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders
• Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report
• Prevalence and risk factors for delirium in critically ill patients with COVID-19 (COVID-D): a multicentre cohort study
• Progress in leukodystrophies with zebrafish
• Prone Positioning as a Potential Risk Factor for Deep Vein Thrombosis in COVID-19 Patients: A Hypothesis Generating Observation
• Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER
• Refsum Disease
• Refsum Disease
• Safety and tolerance of the ketogenic diet in patients with Zellweger Syndrome
• Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review
• Successful repair of an arch aneurysm with acute aortic dissection in a patient with Marfan syndrome using a hybrid surgical approach and the stent-assisted balloon-induced intimal disruption and relamination in aortic dissection repair technique
• TFEB activation triggers pexophagy for functional adaptation during oxidative stress under calcium deficient-conditions
• The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder
• The Nitric Oxide Donor, <em>S</em>-Nitrosoglutathione, Rescues Peroxisome Number and Activity Defects in <em>PEX1G843D</em> Mild Zellweger Syndrome Fibroblasts
• The Nitric Oxide Donor, S-Nitrosoglutathione, Rescues Peroxisome Number and Activity Defects in PEX1G843D Mild Zellweger Syndrome Fibroblasts
• The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis
• The Pathophysiology of Inherited Renal Cystic Diseases
• The subset of peroxisomal tail-anchored proteins do not reach peroxisomes via ER, instead mitochondria can be involved
• Uncombable Hair in a Case of Zellweger Syndrome - A New Association
• Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry
• Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry
• World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
• Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review
• Zellweger Syndrome
• 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