{"id":"W4400587203","doi":"10.15690/vsp.v23i3.2762","title":"Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient","year":2024,"lang":"en","type":"article","venue":"Вопросы современной педиатрии","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute","funders":"","keywords":"Hepatosplenomegaly; Hypotonia; Medicine; Niemann–Pick disease; Pediatrics; Genetic testing; Disease; Compound heterozygosity; Pathology; Internal medicine; Genetics; Allele; Biology; Gene","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":[0.0002893448,0.001759285,0.001019727,0.001637093,0.003045464,0.001023393,0.0007378208,0.003805071,0.002361999],"category_scores_gemma":[0.001904963,0.0008304814,0.0009088364,0.00118057,0.001087618,0.001506691,0.001009301,0.002246793,0.0006116786],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009898659,"about_ca_system_score_gemma":0.0008026299,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003691997,"about_ca_topic_score_gemma":0.003122282,"domain_scores_codex":[0.9995039,0.00003569276,0.00006241482,0.000175931,0.00006389507,0.0001582519],"domain_scores_gemma":[0.9991629,0.0001257896,0.00012534,0.0000282755,0.00006113691,0.0004965992],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000738179,0.00007813203,0.01893501,0.00002125919,0.00001058371,0.9786021,0.0003117292,0.00004527372,0.0005938428,0.0001027302,0.0003605995,0.0008649401],"study_design_scores_gemma":[0.0000192272,0.0001792995,0.02447786,0.00001875996,0.00001608869,0.9738154,0.0001907261,0.0001205544,0.0001729539,0.0001401342,0.0008324786,0.00001644028],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860715,0.003462942,0.0007120103,0.002318868,0.0003065246,0.00009476356,0.000437588,0.00008143911,0.006514268],"genre_scores_gemma":[0.9960878,0.0007891293,0.0003571184,0.0008371397,0.0002917327,0.00002116231,0.0002027228,0.00001410101,0.001398997],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003805071,"threshold_uncertainty_score":0.007901728,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05056366021176027,"score_gpt":0.4015358547429188,"score_spread":0.3509721945311585,"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."}}