Menkes disease – a case report and literature review
Bibliographic record
Abstract
Menkes disease, also known as the „kinky hair disease” is a progressive neurodegenerative disorder, which is connected with the disturbances of the copper absorption. The disease is caused by the lack or disability function of the copper transporting protein, (type P of ATPase), which is normally responsible for the maintenance of an appropriate level of the copper in the serum (there is a mutation of ATP7A gen, which is located on the locus Xq13.3). This results in the excessive accumulation of the copper in the intestinal wall, proximal renal tubular, pancreas, skeletal muscles and placenta, as well as its deficiency in the brain cells, the liver and connective tissue cells. The copper taken with food is not absorbed from the gastrointestinal tract.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.011 | 0.007 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.005 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.006 | 0.002 |
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".