Mucolipidosis II. The clinical, radiological and biochemical features in three cases
Bibliographic record
Abstract
We report on the clinical, radiological and biochemical features of mucolipidosis II in three infants. One with subtle phenotypical findings died at 2 weeks of age without a specific diagnosis. A sibling who died at 2 years of age and another infant, presently 3.5 years of age manifest all the characteristic features of mucolipidosis II: extreme psychomotor delay and failure to thrive, coarse facial features, gingival hyperplasia, joint stiffness, inguinal hernia and skin induration. The corneae were normal and there was no mucopolysacchariduria. Radiologically, these infants show changes which are characteristic but not specific for mucolipidosis II. Cytologically, skin fibroblasts from these patients demonstrate the lysosomal inclusions typical of I-Cell Disease. Biochemically, cultured skin fibroblasts show deficient activity of arylsulphatase A and B and hexosaminidase A and B. These acid hydrolases were increased markedly in plasma and in the culture medium of the skin fibroblasts.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".