ArticleJournal of inherited metabolic disease2016
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 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
- Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.BMC pediatrics · 2026Article
- Zellweger syndrome; identification of mutations inAnnals of medicine · 2025Article
- Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction.Nature communications · 2025Article
- Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.Acta neurologica Belgica · 2025Article
- Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause.Molecular genetics and metabolism reports · 2025Article
- Estimation ofGenetics in medicine open · 2025Article
- Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.BMC pediatrics · 2024Article
- Tandem mass spectrometry of serum cholestanoic (CJournal of mass spectrometry and advances in the clinical lab · 2024Article
- Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.Movement disorders clinical practice · 2024Article
- Peroxisome Deficiency in Cochlear Hair Cells Causes Hearing Loss by Deregulating BK Channels.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review.Pharmaceutics · 2023Review
- Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss.Cells · 2022Article
- Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.International journal of molecular sciences · 2022Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.Orphanet journal of rare diseases · 2022Article
- Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Neurogenetics · 2022Article
- Renal tubular peroxisomes are dispensable for normal kidney function.JCI insight · 2022Article
- Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a NovelFrontiers in neurology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood.
methodsRetrospective cohort study in patients with a genetically confirmed ZSD.
resultsAll patients (n = 19; aged 16-35 years) had a follow-up period of 1-24.4 years (mean 16 years). Seven patients had a progressive disease course, while 12 remained clinically stable during follow-up. Disease progression usually manifests in adolescence as a gait disorder, caused by central and/or peripheral nervous system involvement. Nine were capable of living a partly independent life with supported employment. Systematic MRI review revealed T2 hyperintense white matter abnormalities in the hilus of the dentate nucleus and/or peridentate region in nine out of 16 patients. Biochemical analyses in blood showed abnormal peroxisomal biomarkers in all patients in infancy and childhood, whereas in adolescence/adulthood we observed normalization of some metabolites.
conclusionsThe patients described here represent a distinct subgroup within the ZSDs who survive into adulthood. Most remain stable over many years. Disease progression may occur and is mainly due to cerebral and cerebellar white matter abnormalities, and peripheral neuropathy.
Indexed as
Identifiers
What OpenQuestion holds
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.