{"id":"W4391226740","doi":"10.1016/j.ymgmr.2024.101055","title":"Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services; University of Toronto; Princess Margaret Cancer Centre; Women and Children’s Health Research Institute; University of Alberta Hospital; University of Alberta","funders":"Northern Alberta Clinical Trials and Research Centre; Alberta Health Services","keywords":"Galactosemia; Failure to thrive; Newborn screening; Genotype; Medicine; Pediatrics; Cohort; Internal medicine; Genetics; Biology; Galactose; Biochemistry; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0003339947,0.0003696645,0.0003034417,0.0008262954,0.001573275,0.00076,0.0007402397,0.0003196153,0.001076975],"category_scores_gemma":[0.00107354,0.000317231,0.0002500909,0.001302788,0.0006282812,0.0001986572,0.0006756561,0.0004127595,0.0001816739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003942601,"about_ca_system_score_gemma":0.003195556,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.583908,"about_ca_topic_score_gemma":0.5922894,"domain_scores_codex":[0.9995415,0.00003666056,0.00002622567,0.000104715,0.0001396648,0.0001512711],"domain_scores_gemma":[0.9991375,0.00007467324,0.0001847317,0.00006037058,0.0002336433,0.0003089678],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007858132,0.00004439892,0.9961095,0.000004677858,0.0000166481,0.0008170772,0.0002636867,0.00006589377,0.0004205347,0.00001840452,0.0002010008,0.001959536],"study_design_scores_gemma":[0.00001193714,0.00009156005,0.9976318,0.000007751692,0.00002001308,0.001109502,0.0006687123,0.0001853256,0.0001070206,0.00001836223,0.0001412282,0.000006631303],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992507,0.00005313051,0.00004235291,0.00002763937,0.00000232921,0.00001025176,0.0001711106,0.00000307522,0.000439306],"genre_scores_gemma":[0.999099,0.00007819582,0.00007475244,0.00004520464,0.000004590777,0.000005713031,0.0003828024,0.000002853481,0.0003068187],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.416092,"threshold_uncertainty_score":0.8370848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01100740011644494,"score_gpt":0.2715335371495231,"score_spread":0.2605261370330781,"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."}}