ArticleMolecular genetics and metabolism reports2018
Fabry disease. A potential pitfall A family with a novel intronic mutation.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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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.
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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
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.European journal of pain (London, England) · 2025Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We report two cases of homozygous patients with an intronic alpha-galactosidase gene mutation and a classic phenotype of the disease. One of the patients had a kidney transplant and the donor was his brother, before Fabry disease were diagnose.
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Registered trials
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