{"id":"W2238886653","doi":"10.1016/j.cca.2016.01.003","title":"Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations","year":2016,"lang":"en","type":"article","venue":"Clinica Chimica Acta","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Actelion Pharmaceuticals; AGE-WELL","keywords":"NPC1; Hepatosplenomegaly; Niemann–Pick disease; Context (archaeology); Cohort; Compound heterozygosity; Medicine; Disease; Internal medicine; Niemann–Pick disease, type C; Oxysterol; Gastroenterology; Phenotype; Endocrinology; Pathology; Cholesterol; Biology; Biochemistry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004741816,0.0002047527,0.0005636051,0.0002556219,0.0000487666,0.00001757814,0.0001591281,0.0001326959,0.00007073941],"category_scores_gemma":[0.002453786,0.000161815,0.00006213053,0.0002976931,0.0003297187,0.0002186214,0.0001256581,0.0001692138,0.000005335409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009595552,"about_ca_system_score_gemma":0.0001861091,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003250401,"about_ca_topic_score_gemma":0.00008909866,"domain_scores_codex":[0.9973577,0.0004030076,0.0006958679,0.0005457284,0.0007242667,0.0002734445],"domain_scores_gemma":[0.9974921,0.0005089858,0.0002362664,0.0005135234,0.0007733953,0.0004757116],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001704587,0.001788304,0.9279456,0.0002433237,0.0001108463,0.000007476044,0.0007473414,0.000002084839,0.05546083,0.000004592236,0.0006138497,0.01137122],"study_design_scores_gemma":[0.008546399,0.0009746447,0.9875343,0.0003617182,0.0001908334,0.000002405377,0.0001495241,0.0005516078,0.001349684,0.00007159809,0.0001062659,0.0001609716],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957266,0.00005561897,0.000005697486,0.001089396,0.00004583133,0.00260393,0.0003810639,0.00001960298,0.00007225962],"genre_scores_gemma":[0.9992502,0.00006239468,0.00009153994,0.0001261655,0.00002007203,0.0001214115,0.0002541224,0.00003248178,0.00004164503],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0595888,"threshold_uncertainty_score":0.6598624,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0395252172510236,"score_gpt":0.3594188374804607,"score_spread":0.3198936202294371,"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."}}