ArticleKidney international2022
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Article in Kidney international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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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.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Mechanisms and Therapeutic Perspectives of Podocyte Aging in Podocytopathies.International journal of molecular sciences · 2025Review
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- The Role of Kidney Biopsy in Fabry Disease.Biomedicines · 2025Review
- Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease.Orphanet journal of rare diseases · 2025Article
- The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.BMC nephrology · 2025Article
- CerS6 links ceramide metabolism to innate immune responses in diabetic kidney disease.Nature communications · 2025Article
- Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.Frontiers in cardiovascular medicine · 2025Review
- Normal and Dysregulated Sphingolipid Metabolism: Contributions to Podocyte Injury and Beyond.Cells · 2024Review
- Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.Journal of rare diseases (Berlin, Germany) · 2024Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
While females can suffer serious complications of Fabry disease, most studies are limited to males to avoid confounding by mosaicism. Here, we developed a novel unbiased method for quantifying globotriaosylceramide (GL3) inclusion volume in affected podocytes (F+) in females with Fabry disease independent of mosaicism leading to important new observations. All podocytes in male patients with Fabry are F+. The probability of observing random profiles from F+ podocytes without GL3 inclusions (estimation error) was modeled from electron microscopic studies of 99 glomeruli from 40 treatment-naïve males and this model was applied to 28 treatment-naïve females. Also, podocyte structural parameters were compared in 16 age-matched treatment-naïve males and females with classic Fabry disease and 11 normal individuals. A 4
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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 Socratic graph.