{"id":"W4390933218","doi":"10.15690/vsp.v22i6.2702","title":"Niemann-Pick Disease: Seven Questions about it","year":2024,"lang":"en","type":"article","venue":"Вопросы современной педиатрии","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute","funders":"","keywords":"Niemann–Pick disease; Acid sphingomyelinase; Disease; Sphingomyelin; Lysosomal storage disease; Neurodegeneration; Phenotype; Niemann–Pick disease, type C; NPC1; Medicine; Biology; Immunology; Pathology; Gene; Cell; Endocrinology; Genetics; Cholesterol","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.0004178482,0.0004005381,0.0004685951,0.0004421933,0.0002491579,0.0002496896,0.000362325,0.0002028954,0.003615377],"category_scores_gemma":[0.0005838801,0.000352472,0.0003906102,0.001040007,0.00024426,0.0003404451,0.0002143474,0.0007795528,0.005352578],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003574223,"about_ca_system_score_gemma":0.0008261782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002217556,"about_ca_topic_score_gemma":0.00006815761,"domain_scores_codex":[0.9965165,0.0001188169,0.0005148244,0.0008725608,0.001091514,0.0008857364],"domain_scores_gemma":[0.9976958,0.0001931499,0.00004667058,0.0009495848,0.0002350116,0.0008797736],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001029029,0.00170332,0.02430061,0.004388036,0.001210444,0.009926449,0.003314472,0.0001369044,0.004995381,0.02954209,0.8129003,0.1065529],"study_design_scores_gemma":[0.001350869,0.0003160516,0.05428076,0.001637238,0.0003900679,0.0002475157,0.0003701297,0.003940739,0.0002657389,0.002955214,0.9335819,0.0006637929],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4469265,0.1138129,0.005694513,0.1598495,0.004426831,0.005958859,0.0006521068,0.005246997,0.2574318],"genre_scores_gemma":[0.9161991,0.0009737085,0.0005426097,0.001681724,0.0009038412,0.0002582989,0.0002229239,0.0001519083,0.07906589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4692726,"threshold_uncertainty_score":0.9998927,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02497324251721632,"score_gpt":0.3538291434092795,"score_spread":0.3288559008920632,"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."}}