Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

What Peroxisomes (Don't) do to Mitochondria.

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Early diagnosis of Zellweger syndrome through a Nationwide Liver Disease Registry System (CIRCLe).

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Molecular mechanism of substrate transport by human peroxisomal ABCD3.

Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.

Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures.

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.

Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease.

Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.

Peroxisomal dysfunction interferes with odontogenesis and leads to developmentally delayed teeth and defects in distinct dental cells in Pex11b-deficient mice.

Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report.

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.

A novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate.

Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum.

Mixed coagulopathy in patient with peroxisomal disorder, Zellweger syndrome.

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.

[A case of Zellweger syndrome caused by PEX13 gene variation].

Safety and tolerance of the ketogenic diet in patients with Zellweger Syndrome.

Zellweger Syndrome: A Case Report.

Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model.

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders.

The Pathophysiology of Inherited Renal Cystic Diseases.

[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].

Liver Transplantation for Zellweger Syndrome.

The subset of peroxisomal tail-anchored proteins do not reach peroxisomes via ER, instead mitochondria can be involved.

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.

World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.

Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect.

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.

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.

Uncombable Hair in a Case of Zellweger Syndrome - A New Association.

A Case Study Through an Audiological Perspective on a Pediatric Patient Diagnosed with Zellweger Syndrome.

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.

The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis.

Novel mutation causing Zellweger syndrome.

Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss.

Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.

[A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome].

Control of mitochondrial dynamics and apoptotic pathways by peroxisomes.

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.

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency.

Early Neuroimaging in Zellweger Spectrum Disorders.

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy.

Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER.

Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report.

Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.

IMPAIRMENT OF PEROXISOME BIOGENESIS IN THE SPECTRUM OF ZELLWEGER SYNDROME (CLINICAL CASE).

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

Cholbam® and Zellweger spectrum disorders: treatment implementation and management.

The Nitric Oxide Donor, S-Nitrosoglutathione, Rescues Peroxisome Number and Activity Defects in PEX1G843D Mild Zellweger Syndrome Fibroblasts.

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.

Mitochondria as emergency landing for abandoned peroxins.

The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.

Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes.

Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.

Pipecolic Acid Quantification Using Gas Chromatography-coupled Mass Spectrometry.

Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.

Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk.

Expanded Carrier Screening and the Complexity of Implementation.

High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1-G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment.

Functional Peroxisomes Are Essential for Efficient Cholesterol Sensing and Synthesis.

Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report.

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.

First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea.

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Peroxisome-Deficiency and HIF-2α Signaling Are Negative Regulators of Ketohexokinase Expression.

Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

Recent insights into peroxisome biogenesis and associated diseases.

Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome.

Blenderized Tube Feeding: Health Outcomes and Review of Homemade and Commercially Prepared Products.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Accurate and live peroxisome biogenesis evaluation achieved by lentiviral expression of a green fluorescent protein fused to a peroxisome targeting signal 1.

Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.

Neonate with classic Zellweger syndrome.

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder.

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.

Correspondence Reply to Kitaoka et al.

Chondrodisplasia Punctata of Hip Joints on Routine Radiography Provided a Diagnostic Clue of Zellweger Syndrome.

Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders.

Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.

Differential distribution of peroxisomal proteins points to specific roles of peroxisomes in the murine retina.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder.

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.

Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

[The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder].

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma.

Ethical considerations about changing parental attitude towards end-of-life care in twins with lethal disease.

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms.

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.

Induction of peroxisomal changes in oligodendrocytes treated with 7-ketocholesterol: Attenuation by α-tocopherol.

Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.

Renal oxalate stones in children with Zellweger spectrum disorders.

PEX5 regulates autophagy via the mTORC1-TFEB axis during starvation.

Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease.

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).

Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Lipidomic Analysis: From Archaea to Mammals.

Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report.

Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.

Stippled Chondral Calcifications of the Patella in Zellweger Syndrome.

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Impaired neurogenesis and associated gliosis in mouse brain with PEX13 deficiency.

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia.

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Mitochondrial adventures at the organelle society.

Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.

Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Generation of Peroxisome-Deficient Somatic Animal Cell Mutants.

Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome.

Bile acid analysis in human disorders of bile acid biosynthesis.

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.

Allosteric modulation of peroxisomal membrane protein recognition by farnesylation of the peroxisomal import receptor PEX19.

Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.

Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.

Peroxisome biogenesis and human peroxisome-deficiency disorders.

DISCOVERY OF FUNCTIONAL AND DISEASE PATHWAYS BY COMMUNITY DETECTION IN PROTEIN-PROTEIN INTERACTION NETWORKS.

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

Peroxisomal protein PEX13 functions in selective autophagy.

Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.

Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.

Cholic acid therapy in Zellweger spectrum disorders.

Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome.

A novel method for determining peroxisomal fatty acid β-oxidation.

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Sterol Carrier Protein-2, a Nonspecific Lipid-Transfer Protein, in Intracellular Cholesterol Trafficking in Testicular Leydig Cells.

Eye movement abnormalities in a patient with Zellweger spectrum disorder.

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

Synthetic High-Density Lipoprotein-Like Nanocarrier Improved Cellular Transport of Lysosomal Cholesterol in Human Sterol Carrier Protein-Deficient Fibroblasts.

Low bone mineral density is a common feature of Zellweger spectrum disorders.

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Zellweger spectrum disorders: clinical overview and management approach.

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Violent death in a rare peroxisomal disease--Zellweger syndrome.