{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004341595,0.0007318531,0.0005660853,0.001772904,0.0008381779,0.0007227358,0.0003521056,0.0005555236,0.001062864],"category_scores_gemma":[0.00126391,0.0003299781,0.0005925708,0.001287445,0.0004420034,0.0003072034,0.0004738765,0.0003965644,0.0003191847],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006633609,"about_ca_system_score_gemma":0.0004145101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008017666,"about_ca_topic_score_gemma":0.004598447,"domain_scores_codex":[0.9996364,0.00006142379,0.00004723541,0.0001243245,0.00006450481,0.00006611503],"domain_scores_gemma":[0.9995516,0.00008706676,0.0001288141,0.00005455643,0.0000815684,0.00009635776],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005077806,0.00005173727,0.9883,0.00002182505,0.0001049915,0.003106852,0.000395345,0.0001021383,0.004502582,0.00003262347,0.0002219869,0.00265217],"study_design_scores_gemma":[0.00001194546,0.0001657617,0.9932138,0.000006664849,0.00007900953,0.00535259,0.0002109178,0.0001282827,0.0003056834,0.00002642765,0.0004902499,0.000008640194],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987197,0.0002721728,0.00006543943,0.00003553316,0.000004225214,0.000008991673,0.0003886674,0.000006568556,0.0004988535],"genre_scores_gemma":[0.998682,0.0001567772,0.0001099048,0.00003773973,0.0000135883,0.000009265591,0.0007855843,0.000005402659,0.0001997403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008017666,"threshold_uncertainty_score":0.01594198,"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."}}