Bibliographic record
Abstract
Gaucher disease, the most common lysosomal storage disorder, is caused by the deficiency of glucocerebrosidase, which catalyzes the breakdown of glucocerebroside into glucose and ceramide. The accumulation of glucocerebroside in macrophages causes dysfunction in multiple organ systems [1]. Supplementation of the deficient enzyme by intravenous administration of recombinant glucocerebrosidase acts like the naturally occurring enzyme to break down the glucocerebroside accumulated in Gaucher cells, and has been shown to be effective and safe [1]. Enzyme replacement therapy (ERT) is the mainstay of therapy for Gaucher disease type 1. In symptomatic children with Gaucher disease types 2 or 3, early ERT may prevent the development of serious, and disabling somatic, but not neurologic complications due to the inability of ERT compounds to cross the blood–brain barrier into the CNS [1]. Lifelong intravenous infusion every 2–4 weeks can be a burden for some patients, particularly in those with poor venous access. The high cost of ERT also makes its use suboptimal or impossible in some countries, and burdens healthcare costs.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.097 | 0.056 |
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".