ArticleMolecular genetics and metabolism reports2015
A homozygous mutation in
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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
11 citing papers in PubMed.
- Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.Disease models & mechanisms · 2025Article
- Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.PloS one · 2025Article
- Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.Scientific reports · 2022Article
- Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Neurogenetics · 2022Article
- Article
- 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
- Expanding the spectrum ofMolecular genetics and metabolism reports · 2018Article
- Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.PLoS genetics · 2017Article
- Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Investigative ophthalmology & visual science · 2017Article
- Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.Neurogenetics · 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
8 authors.
Funding
Abstract
We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous
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.