ArticleJournal of inherited metabolic disease2009
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Pooled it
- Article
- Tandem mass spectrometry of serum cholestanoic (CJournal of mass spectrometry and advances in the clinical lab · 2024Article
- Genome-Wide Mendelian Randomization Identifies Ferroptosis-Related Drug Targets for Alzheimer's Disease.Journal of Alzheimer's disease reports · 2024Article
- Peroxisome Biogenesis Disorders.Advances in experimental medicine and biology · 2020Review
- Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.American journal of human genetics · 2017Article
- Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.Journal of medical case reports · 2017Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.Journal of lipid research · 2016Article
- Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.Journal of neurology · 2016Article
- The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.Journal of inherited metabolic disease · 2016Review
- Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.BMJ case reports · 2016Article
- Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Molecular genetics and metabolism · 2016Review
- Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Journal of inherited metabolic disease · 2016Article
- Zellweger spectrum disorders: clinical overview and management approach.Orphanet journal of rare diseases · 2015Review
- Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Stem cell research & therapy · 2015Article
- The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.Molecular genetics and metabolism · 2014Article
- Renal oxalate stones in children with Zellweger spectrum disorders.Saudi journal of anaesthesiaArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Zellweger spectrum disorders (ZSD) are diagnosed by biochemical assay in blood, urine and cultured fibroblasts and PEX gene mutation identification. In most cases studies in fibroblasts corroborate results obtained in body fluids. In 1996 Clayton and colleagues described a 10-year old girl with evidence of a peroxisome disorder, based on elevated bile acid metabolites and phytanate. At the time it was not possible to distinguish whether she had a ZSD or a single peroxisomal protein defect. Studies in our laboratory showed that she also had elevated plasma pipecolate, supporting the former diagnosis. Despite the abnormal metabolites detected in blood (phytanate, bile acid intermediates and pipecolate), analysis of multiple peroxisomal pathways in fibroblasts yielded normal results. In addition, she had a milder clinical phenotype than usually associated with ZSD. Since complementation analysis to determine the gene defect was not possible, we screened this patient following the PEX Gene Screen algorithm (PGS). The PGS provides a template for sequencing PEX gene exons independent of complementation analysis. Two mutations in PEX10 were identified, a frameshift mutation inherited from her father and a de novo missense mutation in a conserved functional domain on the other allele. This case highlights that molecular analysis may be essential to the diagnosis of patients at the milder end of the ZSD spectrum. Furthermore, it supports the concept that some tissues are less affected by certain PEX gene defects than brain and liver.
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.