{"id":"W2054450472","doi":"10.1006/mgme.2000.3113","title":"The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients","year":2001,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":104,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Thiolase; Genotype; Internal medicine; Endocrinology; Medicine; Ketoacidosis; Biology; Compound heterozygosity; Phenotype; Gastroenterology; Genetics; Gene; Diabetes mellitus","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":[0.0002563635,0.001316402,0.0007100165,0.0009635331,0.0009025193,0.0005921577,0.0004575634,0.0007649313,0.001304263],"category_scores_gemma":[0.001776851,0.0005180903,0.0004321976,0.0008338756,0.001172587,0.0003297979,0.0006064894,0.0004357988,0.0003671157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004501739,"about_ca_system_score_gemma":0.000319056,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003128305,"about_ca_topic_score_gemma":0.001556649,"domain_scores_codex":[0.9996035,0.00006674102,0.00006833286,0.0001039104,0.00004247414,0.0001151811],"domain_scores_gemma":[0.9990737,0.0002147584,0.0002094317,0.00006381874,0.00007378012,0.0003645186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005529475,0.0005980068,0.7802691,0.0001024293,0.0001421906,0.1736712,0.002313254,0.001053451,0.02528087,0.0003382023,0.000409363,0.0102925],"study_design_scores_gemma":[0.0003531581,0.002095767,0.8141996,0.00001832839,0.0001410435,0.1767091,0.0009695964,0.0005390567,0.00387343,0.0002530808,0.000765837,0.0000820169],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992442,0.000104151,0.0001032213,0.00001615846,0.000003437869,0.0000108588,0.0001240931,0.00000433333,0.0003894695],"genre_scores_gemma":[0.9994051,0.00007347634,0.00009063569,0.00001391546,0.00000683183,0.00001042484,0.0001581566,0.000004758949,0.0002366806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003128305,"threshold_uncertainty_score":0.006220222,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01443116310145898,"score_gpt":0.2865775357735409,"score_spread":0.2721463726720819,"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."}}