{"id":"W3203177393","doi":"10.1002/jmd2.12243","title":"Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development","year":2021,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Polymicrogyria; Schizencephaly; Medicine; Pediatrics; Megalencephaly; Neuropathology; Magnetic resonance imaging; White matter; Pathology; Radiology; Disease","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":[0.0002921149,0.0002899277,0.0006461552,0.003518319,0.0002466325,0.0003971453,0.0003072368,0.0005540702,0.001021333],"category_scores_gemma":[0.001313873,0.0001731501,0.0003912523,0.003346453,0.0002730216,0.0005544355,0.0002959298,0.000181267,0.0002223178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002402,"about_ca_system_score_gemma":0.0007682724,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001646478,"about_ca_topic_score_gemma":0.005049056,"domain_scores_codex":[0.9997362,0.00003922594,0.0001012314,0.00004281292,0.00005698943,0.00002351397],"domain_scores_gemma":[0.9990638,0.0003694694,0.0004356121,0.00001484934,0.00008297043,0.0000332643],"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":[0.000560167,0.000157333,0.2940033,0.06241049,0.001147536,0.3704041,0.001425421,0.0003283761,0.01332107,0.00102157,0.007511646,0.2477091],"study_design_scores_gemma":[0.0001023367,0.0004481511,0.3230484,0.01934814,0.002746884,0.5954012,0.002482023,0.0003568072,0.004606486,0.0006180338,0.05079144,0.0000501008],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.3951677,0.5970058,0.0007349513,0.0008614983,0.0001596683,0.0001521615,0.001918018,0.00003701653,0.003963281],"genre_scores_gemma":[0.6796355,0.3148437,0.002473999,0.0006814357,0.0002824718,0.00009379013,0.001251448,0.000009312385,0.0007284547],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.003518319,"threshold_uncertainty_score":0.003416657,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004767481251757852,"score_gpt":0.2226975376181415,"score_spread":0.2179300563663836,"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."}}