ArticleCureus2025
GM2 Gangliosidosis AB Variant: A Hidden Truth.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GM2 gangliosidosis AB variant (GM2AB) is a rare neurodegenerative lysosomal storage disorder with clinical features resembling Tay-Sachs disease but characterized by normal lysosomal β-hexosaminidase A enzyme activity. To date, only 14 cases of the acute infantile form have been reported. To the best of our knowledge, this is the first case of GM2AB in a Portuguese patient reported in the literature. We describe the case of a girl with GM2AB, whose clinical presentation and pathological findings were critical for diagnosis. Post-mortem genetic sequencing identified a pathogenic mutation in homozygosity in the
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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.