{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005746491,0.0003054409,0.0004513113,0.00008369202,0.0001503935,0.00007506044,0.0002160534,0.0002333643,0.000005401391],"category_scores_gemma":[0.0008695844,0.0002176116,0.00009397638,0.0002036007,0.0004011578,0.000008033561,0.0002465165,0.0001596696,0.000001682214],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002172776,"about_ca_system_score_gemma":0.0001150037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002743318,"about_ca_topic_score_gemma":0.0001357044,"domain_scores_codex":[0.9975511,0.0002559079,0.0008785449,0.0006098285,0.0002849603,0.0004196471],"domain_scores_gemma":[0.9988313,0.00009819178,0.0002313068,0.0004714425,0.0001682676,0.0001994904],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.003630747,0.002437828,0.3453394,0.0004537698,0.0003562043,0.00007685497,0.001679097,0.0003363308,0.3620924,0.01234019,0.0005444387,0.2707127],"study_design_scores_gemma":[0.01690276,0.001574677,0.896447,0.00005648689,0.0006026005,0.0000579918,0.000683106,0.001263886,0.02203257,0.004471604,0.05444812,0.001459196],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9758762,0.02095468,0.00173121,0.0001701401,0.0003226505,0.0006619442,0.00001990366,0.000008290996,0.0002549918],"genre_scores_gemma":[0.9844695,0.008954627,0.005897103,0.0003720738,0.00007134661,0.00004133435,0.00002231187,0.00004302409,0.0001286237],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5511076,"threshold_uncertainty_score":0.8873942,"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."}}