ArticlePakistan journal of medical sciences
Fabry disease in South and Central Asia: Is it truly a rare disease or underappreciated?
Article in Pakistan journal of medical sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
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2 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3) leads to its progressive lysosomal accumulation throughout the body. Multiple organs can be affected. The atypical late-onset cardiac variant is associated with a high burden of cardiac morbidity and mortality. The true burden of FD in Central and some South Asian countries is unknown. Lack of research studies and awareness, and misdiagnosis/underdiagnosis may be the reasons. Some possible explanations as well suggestions for a structured Fabry care and research possibilities in these WHO regions are offered.
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