Cardiac manifestations of Fabry disease
Bibliographic record
Abstract
Fabry disease (FD, OMIM #301500) is a lysosomal disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a functional deficiency in the enzyme α-galactosidase A. Fabry cardiomyopathy is now the most common cause of mortality in patients with FD. Large-scale metabolic and genetic screening studies have revealed FD to be more prevalent than previously thought and the later-onset variant form of FD represents an unrecognized health burden. Genetic testing is critical for the diagnosis of FD and echocardiography with strain imaging and cardiac magnetic resonance imaging using late-enhancement and T1 mapping are important imaging tools. Current therapies for FD are enzyme replacement therapy and, in patients with an amenable GLA pathogenic variant, pharmacological chaperone therapy, which can prevent FD progression, while gene therapy and the use of substrate reduction therapy represent promising novel therapies.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".