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Record W2022250130 · doi:10.1586/17446651.2.6.809

Phenylketonuria: questioning the gospel

2007· article· en· W2022250130 on OpenAlexaff
Will Hanley

Bibliographic record

VenueExpert Review of Endocrinology & Metabolism · 2007
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
Fundersnot available
KeywordsMedicinePhenylalanine hydroxylasePhenylketonuriasPediatricsPregnancyTetrahydrobiopterinMetabolic control analysisPhenylalanineEndocrinologyAmino acidBiologyGeneticsInsulin

Abstract

fetched live from OpenAlex

Phenylketonuria (PKU) was first described over 70 years ago, treatment was developed 50 years ago and universal newborn PKU screening was introduced 40 years ago. Phenylalanine-restricted dietary treatment has prevented mental retardation in thousands of individuals worldwide. We acknowledge, however, that there is still much to learn in the field. The incidence of mental retardation in untreated PKU is likely to be considerably less than the original estimates. Since dietary control is suboptimal in late childhood, adolescence and adulthood, alternative methods of treatment are being explored. These include large neutral amino acids, phenylalanine ammonia lyase, tetrahydrobiopterin and gene replacement. Evidence has surfaced that the semisynthetic, low-protein diet used to treat PKU may be deficient in certain important nutrients. Maternal PKU treatment may be successful even if initiated as late as 8-10 weeks into pregnancy. A plea is made for the immediate establishment of adult treatment centers for PKU (and other inherited metabolic diseases) for long-term treatment, follow-up and research.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.785
Threshold uncertainty score0.682

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
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 head0.009
GPT teacher head0.309
Teacher spread0.300 · 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.

The models applied no category: nothing in the taxonomy fit this work.
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

Citations5
Published2007
Admission routes1
Has abstractyes

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