Multiplex Quantification of Plasma Biomarkers for Patients with Gaucher Disease Type 1
Why this work is in the frame
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Bibliographic record
Abstract
Abstract Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency of the enzyme beta‐glucocerebrosidase. This leads to the accumulation of glycolipids in macrophages and ultimately results in tissue damage. Recent metabolomic studies highlighted several potential biomarkers in plasma specimens. In hopes of better understanding the distribution, importance, and clinical significance of these potential markers, a UPLC‐MS/MS method was developed and validated to quantify lyso‐Gb 1 and six related analogs (with the following modifications on the sphingosine moiety: ‐C 2 H 4 (‐28 Da), ‐C 2 H 4 +O (‐12 Da), ‐H 2 (‐2 Da), ‐H 2 +O (+14 Da), +O (+16 Da), and +H 2 O (+18 Da)), sphingosylphosphorylcholine, and N‐ palmitoyl‐O‐phosphocholineserine in plasma specimens of treated and untreated patients. This 12‐min UPLC‐MS/MS method involves a purification step via solid‐phase extraction followed by evaporation under nitrogen flow and resuspension in an organic mix compatible with HILIC chromatography. This method is currently used for research purposes and might be used for monitoring, prognostics, and follow‐up. © 2023 The Authors. Current Protocols published by Wiley Periodicals LLC.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 it