Bibliographic record
Abstract
Inherited disorders of amino acid, organic acid, and peroxisomal metabolism are individually rare but have a high cumulative frequency. The peroxisomal disorders are subdivided into two groups: the peroxisome biogenesis disorders and the single peroxisome enzyme deficiencies. Impaired mitochondrial glutamate transport has been reported in an autosomal recessive neonatal myoclonic epilepsy. Epileptic seizures may be the inaugural or the main symptom in rare inborn errors of intermediary metabolism. Biochemical analyses in Zellweger spectrum disorders show elevated plasma very long chain fatty acids (VLCFA) and usually deficient erythrocyte membrane plasmalogens. Metabolic acidosis with ketosis is suggestive of organic acidurias such as methylmalonic aciduria, propionic aciduria, and isovaleric acidemia, and may indicate a large number of rarer and less known organic acidurias. Therapy with biotin in biotinidase deficiency and with vitamin B6 in vitamin B6-dependency represent two of the most successful therapies for inborn errors of metabolism.
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) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.007 | 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".