ArticleEuropean journal of human genetics : EJHG2014
Clinical utility gene card for: cystinosis.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed.
- An Open-Label, Phase III Study to Assess the Efficacy and Safety of Cysteamine Ophthalmic Solution 0.55% in Japanese Cystinosis Patients.Clinical ophthalmology (Auckland, N.Z.) · 2024Trial
- A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm.Frontiers in nephrology · 2026Article
- Article
- A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients.Pharmaceuticals (Basel, Switzerland) · 2024Article
- Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.CEN case reports · 2022Article
- Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.Orphanet journal of rare diseases · 2022Article
- Testicular function in males with infantile nephropathic cystinosis.Human reproduction (Oxford, England) · 2021Article
- Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.BMC medical genetics · 2020Article
- Inherited disorders of lysosomal membrane transporters.Biochimica et biophysica acta. Biomembranes · 2020Review
- CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.BMC nephrology · 2019Article
- Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report.The American journal of case reports · 2019Article
- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.JIMD reports · 2018Article
- Cystinosis: a review.Orphanet journal of rare diseases · 2016Review
- Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient.Journal of translational medicine · 2015Article
- First report of CTNS mutations in a Chinese family with infantile cystinosis.TheScientificWorldJournal · 2015Article
- Nephropathic cystinosis: an international consensus document.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2014Article
- Improving the prognosis of nephropathic cystinosis.International journal of nephrology and renovascular disease · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.