Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism
Bibliographic record
Abstract
Folate and cobalamin (vitamin B12) are B group vitamins that play interacting roles in cellular metabolism. Hereditary folate malabsorption results in a specific deficiency of folate transport across the intestine and across the blood–brain barrier. Glutamate formiminotransferase deficiency has been variably described as having phenotypes ranging from severe neurologic disease to benign excretion of formiminoglutamate. Methylenetetrahydrofolate reductase deficiency is the most common and best-characterized inborn error of folate metabolism. Transcobalamin deficiency is associated with megaloblastic anemia and pancytopenia, and with immunologic, gastrointestinal, and mental disorders. Prenatal therapy has been attempted for several fetuses with cobalamin-responsive methylmalonic aciduria using vitamin B12 or OHCbl, administered intramuscularly or orally to the mother. Prenatal therapy was also performed on a fetus with the cblE disorder, with 1 mg of hydroxocobalamin administered intramuscularly weekly to the mother.
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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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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 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".