P094: Dimethylglycine dehydrogenase deficiency in siblings with skeletal and neurodevelopmental manifestations
Bibliographic record
Abstract
pathogenic and the other of unknown significance.Serum carbohydrate-deficient transferrin analysis was normal, but plasma N-Glycan analysis indicated increased levels of Glc3Man7GlcNAc2 and Glc3Man8, suggesting MOGS-CDG (Congenital Disorder of Glycosylation, Type IIb).Diagnostic Workup: Further testing using Liquid Chromatography High Resolutions Accurate Mass Spectrometry (LC-HRAM) confirmed the diagnosis by identifying specific N-glycan structures, including Glc3Man7-8 in IgG and an increased Glc3Man7 in a triple-depleted fraction (IgG, transferrin, albumin removed).Notably, the N-glycan profile in the patient's transferrin remained normal.MOGS-CDG results from the loss of function of mannosyl-oligosaccharide glucosidase (glucosidase I), an enzyme critical for glycoprotein quality control in the endoplasmic reticulum.
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How this classification was reachedexpand
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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".