ReviewOrphanet journal of rare diseases2015
Zellweger spectrum disorders: clinical overview and management approach.
Review in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03440905 (Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders), which is not on this map. Cited by 121 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
Who cites it
121 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Autophagy dependent HIF1α proteostasis is compromised in models of PEX1 deficiencies.bioRxiv : the preprint server for biology · 2026Article
- Ciliary Membrane Lipid Homeostasis in Health and Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Inhibition of USP2 suppresses pathological pexophagy and rescues PEX1-deficient peroxisome biogenesis disorder.Signal transduction and targeted therapy · 2026Article
- Peroxisomal Import Stress Drives Cellular Senescence through SCAF1-dependent Suppression of Mitoribosome Biogenesis.bioRxiv : the preprint server for biology · 2026Article
- Review
- Peroxisomal interactome mapping enables network-based modelling of function and disease.Life science alliance · 2026Article
- Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.BMC pediatrics · 2026Article
- Ocular Clues to Liver Disease: A Strategic Diagnostic Lens.Diseases (Basel, Switzerland) · 2026Review
- Engineering controlled-release steroid therapeutics: fabrication and molecular design of self-assembled microparticles.Science advances · 2026Article
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Review
- Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.Metabolites · 2026Review
- Review
- Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficientFrontiers in molecular neuroscience · 2026Article
- Zellweger syndrome; identification of mutations inAnnals of medicine · 2025Article
- The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Stem cell and gene therapies for leukodystrophies.Molecular therapy. Methods & clinical development · 2025Review
- Peroxisome Dysfunction and Steatotic Liver Disease.International journal of molecular sciences · 2025Review
- Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.Disease models & mechanisms · 2025Article
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.