{"id":"W2127795391","doi":"10.1002/ajmg.a.31735","title":"The National Niemann–Pick C1 disease database: Report of clinical features and health problems","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":161,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Institutes of Health Research; University of Alberta","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health","keywords":"Medicine; Pediatrics; Niemann–Pick disease, type C; Ataxia; Disease; NPC1; Jaundice; Hepatosplenomegaly; Dysphagia; Cerebral palsy; Surgery; Internal medicine; Physical therapy; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009173283,0.0002889139,0.0007463707,0.004086701,0.000529594,0.0005679083,0.00052207,0.0004091208,0.004752042],"category_scores_gemma":[0.003573788,0.0001671619,0.0002414654,0.006866515,0.0001394072,0.0006198841,0.0007592544,0.0003797126,0.00145009],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000838007,"about_ca_system_score_gemma":0.001029828,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01662629,"about_ca_topic_score_gemma":0.01517119,"domain_scores_codex":[0.9989434,0.0002061958,0.0003122765,0.0001801732,0.0002306319,0.0001273516],"domain_scores_gemma":[0.9966486,0.0004425362,0.001336475,0.0001634375,0.0009171405,0.0004917789],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003393977,0.0001377401,0.9442683,0.000506781,0.0001122171,0.0002988472,0.0003147789,0.0002207576,0.0004372231,0.0001880039,0.04136918,0.01180679],"study_design_scores_gemma":[0.00003560046,0.00004503158,0.9839566,0.00008481555,0.00003061673,0.0004906635,0.000253015,0.0002255562,0.0001626548,0.00004109595,0.01465846,0.00001595754],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.3764841,0.00164377,0.0004961861,0.0003879879,0.00004102418,0.0007866652,0.6069995,0.00008671876,0.01307406],"genre_scores_gemma":[0.4697104,0.002138583,0.001984292,0.0003801027,0.00006424239,0.001430056,0.5213445,0.00004009434,0.002907638],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01662629,"threshold_uncertainty_score":0.03305906,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0903036147776431,"score_gpt":0.4719888374192925,"score_spread":0.3816852226416494,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}