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Record W2043870528 · doi:10.1159/000185814

Charcot-Marie-Tooth Disease and Nephropathy in a Mother and Daughter with a Review of the Literature

2008· review· en· W2043870528 on OpenAlexaff
Michael D. Paul, Daniel Fernández, William Pryse‐Phillips, M.H. Gault

Bibliographic record

Venue˜The œNephron journals/Nephron journals · 2008
Typereview
Languageen
FieldNeuroscience
TopicHereditary Neurological Disorders
Canadian institutionsMemorial University of Newfoundland
Fundersnot available
KeywordsMedicineDaughterNephropathyProteinuriaDiseaseInternal medicineEndocrinologyKidneyDiabetes mellitus

Abstract

fetched live from OpenAlex

We report a mother-and-child combination of Charcot-Marie-Tooth disease and nephropathy. The mother received a cadaveric renal transplant, and the daughter has heavy proteinuria with normal glomerular filtration rate. There have been 7 single case reports of both disease entities and 1 report of 3 patients which includes the only sib pair. The related literature is reviewed.

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)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Research integrity
Consensus categoriesMeta-epidemiology (narrow)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.913
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0030.001
Bibliometrics0.0010.002
Science and technology studies0.0010.001
Scholarly communication0.0000.001
Open science0.0020.001
Research integrity0.0000.004
Insufficient payload (model declined to judge)0.0010.000

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 head0.044
GPT teacher head0.306
Teacher spread0.262 · 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; both teacher heads agree on what is shown here.

Study designOther design
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

Citations18
Published2008
Admission routes1
Has abstractyes

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