{"id":"W2883459175","doi":"10.1002/mdc3.12667","title":"ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease","year":2018,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre; Toronto Western Hospital; University of Toronto","funders":"","keywords":"Coenzyme Q10; Dystonia; Ataxia; Myoclonus; Medicine; Movement disorders; Disease; Pediatrics; Mitochondrial disease; Bioinformatics; Internal medicine; Genetics; Gene; Psychiatry; 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":[0.0002133614,0.0003213446,0.0002861875,0.0002821739,0.0002390153,0.0002102851,0.0002083351,0.0006860237,0.0009884222],"category_scores_gemma":[0.0005300971,0.00007433736,0.0001902919,0.0002320156,0.0004178794,0.0002137383,0.0002334911,0.0002968705,0.0002665127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002823925,"about_ca_system_score_gemma":0.000220709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005496251,"about_ca_topic_score_gemma":0.0006428717,"domain_scores_codex":[0.9999113,0.00002686593,0.00001607647,0.0000132962,0.00001388948,0.00001849389],"domain_scores_gemma":[0.9998129,0.00008486149,0.0000407866,0.00001175362,0.00001381446,0.00003591771],"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":[0.001378661,0.0003117426,0.1195861,0.001797932,0.0001573072,0.4905048,0.000469057,0.0005657826,0.1687281,0.001826755,0.003852774,0.210821],"study_design_scores_gemma":[0.0002269252,0.001973497,0.101996,0.000362524,0.0001808064,0.8335203,0.0003967294,0.0006336471,0.03309355,0.001705169,0.02587846,0.00003251343],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9107589,0.06794509,0.005863635,0.002977554,0.00017673,0.00008523032,0.0001552897,0.0001223019,0.0119152],"genre_scores_gemma":[0.9928358,0.00535527,0.0008202882,0.0002850378,0.00005646744,0.000009070731,0.00003621403,0.000004692613,0.0005971339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009884222,"threshold_uncertainty_score":0.003306627,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01180907841930133,"score_gpt":0.3244106861175212,"score_spread":0.3126016076982199,"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."}}