{"id":"W4385299485","doi":"10.1016/j.ymgme.2023.107670","title":"Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples","year":2023,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal","funders":"Recordati Rare Diseases; Alnylam Pharmaceuticals","keywords":"Disease; Medicine; Porphyria; Acute intermittent porphyria; Intensive care medicine; Genetic testing; Genetic counseling; Bioinformatics; Internal medicine; Biology; Genetics","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":[0.008215275,0.001636537,0.001719663,0.004052167,0.001528035,0.003222654,0.003615159,0.007703203,0.007692586],"category_scores_gemma":[0.02821308,0.0005995001,0.001463123,0.001826415,0.002012057,0.007608925,0.003134794,0.009165092,0.00629961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001683108,"about_ca_system_score_gemma":0.004119269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001989195,"about_ca_topic_score_gemma":0.005641435,"domain_scores_codex":[0.99453,0.002444213,0.001460088,0.0002675844,0.0009933508,0.0003047205],"domain_scores_gemma":[0.9809884,0.006846488,0.001645957,0.0008676023,0.007670612,0.001980821],"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":[0.0001331406,0.0005735969,0.006281267,0.002832774,0.00006576625,0.01803685,0.001080241,0.001554221,0.00102411,0.009984223,0.4928701,0.4655637],"study_design_scores_gemma":[0.00023348,0.0002111494,0.006517428,0.02589566,0.0001890541,0.0405379,0.005126601,0.002228086,0.0005688578,0.04376706,0.8744621,0.0002626962],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.005407543,0.1913934,0.05036457,0.6935446,0.01019956,0.001036273,0.0004819587,0.001588759,0.04598346],"genre_scores_gemma":[0.04943204,0.4107368,0.3281099,0.1554816,0.02964822,0.002998708,0.002505875,0.0005051498,0.02058178],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008215275,"threshold_uncertainty_score":0.04344708,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01616841496383227,"score_gpt":0.2760618863195406,"score_spread":0.2598934713557083,"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."}}