ArticleSkeletal radiology2013
Progressive destructive bone changes in patients with cystinosis.
Article in Skeletal radiology, 2013. 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, 17 citations in OpenAlex.
- Hematopoietic Stem-Cell Gene Therapy for Cystinosis.The New England journal of medicine · 2026Trial
- Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.Pediatric nephrology (Berlin, Germany) · 2018Trial
- From Cysteamine to Pepstatin A: Targeting Cathepsin D To Improve Bone Health in Cystinosis.International journal of biological sciences · 2026Article
- Alterations in bone metabolites with age in C57BL/6 mice model.Biogerontology · 2022Article
- Review
- Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.International journal of molecular sciences · 2020Review
- Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells.Frontiers in endocrinology · 2019Article
- Skeletal Consequences of Nephropathic Cystinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018Article
- The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Nature reviews. Nephrology · 2017Review
- Skeletal implications and management of cystinosis: three case reports and literature review.BoneKEy reports · 2016Review
- Management dilemmas in pediatric nephrology: Cystinosis.Pediatric nephrology (Berlin, Germany) · 2015Article
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 at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in which intracellular cystine accumulates. It is caused by mutations in the CTNS gene. Clinical manifestations include renal tubular Fanconi syndrome in the first year of life, rickets, hypokalaemia, polyuria, dehydration and acidosis, growth retardation, hypothyroidism, photophobia and renal glomerular deterioration. Late complications include myopathy, pancreatic insufficiency and retinal blindness. Skeletal manifestations described in these patients include failure to thrive, osteomalacia, rickets and short stature. This paper describes progressive bony abnormalities in three unrelated patients with nephropathic cystinosis that have not been reported previously.
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.