ArticleJIMD reports2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 22 citations in OpenAlex.
- Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.Molecular genetics and metabolism reports · 2025Article
- Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.Indian journal of clinical biochemistry : IJCB · 2025Article
- Therapeutic landscape of Fabry disease: advances and challenges from classical strategies to emerging therapies.Frontiers in medicine · 2025Review
- Cryptogenic strokes and neurological symptoms of Fabry disease.Frontiers in neurology · 2025Article
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.JIMD reports · 2024Article
- Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.Therapeutics and clinical risk management · 2024Review
- Lysosomal storage disorders: from biology to the clinic with reference to India.The Lancet regional health. Southeast Asia · 2023Review
- Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.Journal of clinical medicine · 2022Article
- Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise.Orphanet journal of rare diseases · 2022Review
- Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.Frontiers in medicine · 2021Review
- Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.JIMD reports · 2020Article
- Screening for Fabry disease in patients on Hemodialysis.International journal of applied & basic medical researchArticle
Corrections and comments
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Authors and funding
20 authors at 13 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involving 10 tertiary referral centers in India, we analyzed the clinical course and genotype of 54 patients from 37 families. Family screening identified 19 new patients (35%) from 12 index cases. Then, 33
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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 OpenQuestion graph.