Bibliographic record
Abstract
Background: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism caused by mutations in Glut2.To date there is no case has been reported from China.Objective and hypotheses: To summarize the clinical characteristics of FBS.Methods: We reported the first two cases of FBS in China.We summarized the clinical characteristics of FBS by reviewing the 2 cases and published literature. Results:The both cases presented similar manifestations as reported, including severe short stature, hypoglycemia, hepatomegaly secondary to glycogen accumulation, severe glycouremia secondary to proximal renal tubular dysfunction.And more points may help to differentiate FBS and type I glycogen storage disease(GSD I) including glucose intolerance with normal lactic acid and uric acid, possible and slightly glucose response to glucagon stimulation without accumulation of lactic acid, severe symptoms of hypophosphatemia and rickets, and metabolic acidosis caused by type II renal tubular acidosis.After receiving symptomatic treatment both children presented catch-up growth.Conclusions: FBS is a rare inherited disease caused by mutations in Glut2.It should be carefully differentiated from GSD I and diabetes mellitus in clinical practice.Symptomatic treatment can be helpful.
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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) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.003 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.856 | 0.768 |
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; the direct Gemma label and the distilled Codex classifier agree on what is shown here.
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".