ArticleMolecular genetics and metabolism reports2016
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Pooled it
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.PloS one · 2025Article
- Identification of a novel heterozygous variant in theTranslational pediatrics · 2024Article
- 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
- Article
- A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in theTranslational pediatrics · 2021Article
- The Nitric Oxide Donor,Frontiers in cell and developmental biology · 2021Article
- Mild form of Zellweger Spectrum Disorders (ZSD) due to variants inMolecular genetics and metabolism reports · 2020Article
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.Journal of applied genetics · 2020Article
- Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Advances in experimental medicine and biology · 2020Article
- Expanding the clinical and genetic spectrum of Heimler syndrome.Orphanet journal of rare diseases · 2019Article
- Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.Journal of human genetics · 2019Review
- A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.Journal of inherited metabolic disease · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
Peroxisomal biogenesis disorders (PBD) are caused by mutations in
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.