Bibliographic record
Abstract
Phenylketonuria (PKU) is a rare, inherited, brain-threatening metabolic disorder found in approximately 1 in 12,000 to 15,000 infants born in Canada i PKU is observed when the body is unable to process phenylalanine, or “Phe, ” an essential amino acid found in dietary protein ii In people with PKU, more than 500 mutations have been identified in the phenylalanine hydroxylase (PAH) gene, which is responsible for processing Phe in the liver iii These mutations cause a deficiency in the PAH enzyme, resulting in an accumulation in the blood and brain of toxic levels of Phe iii If left untreated, symptoms of PKU can range from mild cognitive impairment to severe mental retardation and epilepsy iv Diagnosis PKU is recognized as the first condition widely tested for through newborn screening – a simple procedure conducted through bloodspot collection Bloodspot collection involves pricking the heel of a newborn baby to collect blood samples, which are sent to a specialized laboratory to test for certain rare disorders v
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 | 0.001 | 0.015 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.004 |
| Insufficient payload (model declined to judge) | 0.180 | 0.087 |
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".