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Record W2087187507 · doi:10.1055/s-2001-17944

Prenatal Diagnosis of Disorders of Energy Metabolism

2001· review· en· W2087187507 on OpenAlexaff
Brian H. Robinson

Bibliographic record

VenueSeminars in Neurology · 2001
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsHospital for Sick Children
FundersUnited Mitochondrial Disease FoundationMarch of Dimes Foundation
KeywordsMedicinePrenatal diagnosisEnergy metabolismMitochondrial DNAMitochondrial diseaseBioinformaticsGeneGeneticsPregnancyFetusInternal medicineBiology

Abstract

fetched live from OpenAlex

Prenatal diagnosis for disorders of energy metabolism is problematic because of the lack of information about the efficacy of the procedures currently employed. Difficulties arise due to uncertainty as to the nuclear or mitochondrial DNA origin of respiratory chain abnormalities, and also as to the tissue specificity of defective gene expression. Here, we look at the current experience with prenatal diagnosis of these disorders and examine possible future directions.

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 distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.996
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.010
GPT teacher head0.268
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreReview

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".

Quick stats

Citations8
Published2001
Admission routes1
Has abstractyes

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