{"id":"W3157258489","doi":"10.21037/tp-20-335","title":"Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide","year":2021,"lang":"en","type":"review","venue":"Translational Pediatrics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Neuroimaging; Medicine; Radiological weapon; Mitochondrial disease; Differential diagnosis; Bioinformatics; Intensive care medicine; Pathology; Psychiatry; Radiology; Genetics; Mitochondrial DNA; Biology","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":[0.0006297739,0.001426712,0.001027809,0.005223122,0.0004429454,0.001193479,0.001216369,0.002117955,0.00502135],"category_scores_gemma":[0.001965836,0.0005063776,0.0005257181,0.002406075,0.0009047325,0.002609831,0.001032712,0.004135704,0.005700216],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008229076,"about_ca_system_score_gemma":0.0007996827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001526517,"about_ca_topic_score_gemma":0.002369004,"domain_scores_codex":[0.9997277,0.00007167579,0.00006098851,0.00004418337,0.00007377471,0.00002165397],"domain_scores_gemma":[0.9991047,0.0005204965,0.00007762386,0.00002727584,0.0001971058,0.00007269617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004705146,0.000105276,0.001089052,0.004639633,0.00004052969,0.003801014,0.0003123212,0.0006170325,0.001221892,0.01005744,0.3332964,0.6447724],"study_design_scores_gemma":[0.00000712664,0.00004825229,0.001807888,0.00433483,0.00002443039,0.03529431,0.0001915994,0.0002057291,0.0002346339,0.007596985,0.9502207,0.00003359977],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0006106974,0.9659013,0.006722908,0.008905089,0.004586573,0.00007603804,0.0002790562,0.0002658741,0.01265247],"genre_scores_gemma":[0.003562452,0.9625807,0.01200342,0.006150037,0.007104488,0.0001150227,0.000552082,0.00005004348,0.007881715],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005223122,"threshold_uncertainty_score":0.01679814,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03123191255253115,"score_gpt":0.3250805938487402,"score_spread":0.293848681296209,"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."}}