ReviewJournal of inherited metabolic disease2016
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.
Review 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 15 papers, 2 of them syntheses 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
15 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review.International journal of molecular sciences · 2018Pooled it
- Visualisation of peroxisomes: a journey through seven decades.Histochemistry and cell biology · 2026Review
- Abnormal redox balance at membrane contact sites causes axonopathy inResearch square · 2024Article
- Approaches to diagnosis for individuals with a suspected inherited white matter disorder.Handbook of clinical neurology · 2024Review
- Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.Molecular genetics and metabolism · 2023Article
- Applying CRISPR-Cas9 Genome Editing to Study Genes Involved in Peroxisome Biogenesis or Peroxisomal Functions.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Nucleic acid direct delivery to fibroblasts: a review of nucleofection and applications.Journal of biological engineering · 2022Review
- D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.American journal of medical genetics. Part A · 2022Article
- Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease.The FEBS journal · 2020Article
- Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Retention of fatty acyl desaturase 1 (fads1) in Elopomorpha and Cyclostomata provides novel insights into the evolution of long-chain polyunsaturated fatty acid biosynthesis in vertebrates.BMC evolutionary biology · 2018Article
- Expanding the spectrum ofMolecular genetics and metabolism reports · 2018Article
- Plasma lipidomics as a diagnostic tool for peroxisomal disorders.Journal of inherited metabolic disease · 2018Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty acid or reduced plasmalogen levels. The metabolite abnormalities in peroxisomal disorders are used in the diagnostics of these disorders. In this paper we discuss in detail the different diagnostic tests available for peroxisomal disorders and focus specifically on the important role of biochemical and functional studies in cultured skin fibroblasts in reaching the right diagnosis. Several examples are shown to underline the power of such studies.
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.