{"id":"W2082524434","doi":"10.1016/s1096-7192(02)00202-0","title":"Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201]","year":2003,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children; SickKids Foundation","funders":"","keywords":"Carnitine; Newborn screening; CTD; Medicine; Internal medicine; Endocrinology; Pediatrics","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":[0.0007318412,0.002452473,0.002193806,0.002058387,0.001287003,0.0009096668,0.003611585,0.005594205,0.07811627],"category_scores_gemma":[0.004513605,0.0007466453,0.002360755,0.0005109807,0.0008629929,0.001603025,0.001920635,0.003600071,0.0202344],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008708569,"about_ca_system_score_gemma":0.0007005555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00239017,"about_ca_topic_score_gemma":0.004305314,"domain_scores_codex":[0.9992685,0.0001036782,0.0001762131,0.0001357501,0.0001030445,0.0002128861],"domain_scores_gemma":[0.9955448,0.0022064,0.0002782433,0.0002909104,0.0006933038,0.0009862427],"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":[0.002607055,0.0007380515,0.01101743,0.001044136,0.0003934938,0.4772271,0.0002379352,0.0004637198,0.01207445,0.001720279,0.4366813,0.05579509],"study_design_scores_gemma":[0.000985753,0.001790947,0.03884615,0.0002861598,0.0005366514,0.301171,0.0001500946,0.0009070337,0.007921798,0.002971656,0.6442057,0.000227043],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"editorial","genre_gemma":"empirical","genre_scores_codex":[0.1061268,0.0282314,0.008147555,0.2576836,0.4624764,0.001618597,0.01286915,0.001542774,0.1213038],"genre_scores_gemma":[0.2707018,0.01820752,0.009614249,0.0673172,0.2932347,0.001124293,0.0200352,0.0007932773,0.3189718],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.07811627,"threshold_uncertainty_score":0.2613249,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007983439928986187,"score_gpt":0.2289712376235598,"score_spread":0.2209877976945736,"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."}}