{"id":"W4392967653","doi":"10.1002/jimd.12723","title":"The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency","year":2024,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Stollery Children's Hospital; University of British Columbia; Hospital for Sick Children; Women and Children’s Health Research Institute; University of Alberta; BC Children's Hospital","funders":"Instituto de Salud Carlos III; Deutsches Krebsforschungszentrum","keywords":"Movement disorders; Hypotonia; Dystonia; Choreoathetosis; Ataxia; Phenotype; Disease; Psychology; Chorea; Medicine; Psychiatry; Pediatrics; Genetics; Internal medicine; 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":[0.0001848896,0.0003636582,0.0003028371,0.0004242221,0.0002815846,0.0003265341,0.0002150082,0.0003240121,0.0009662336],"category_scores_gemma":[0.00123815,0.00008983006,0.0002732075,0.0003609199,0.0002002642,0.0002317456,0.0002822843,0.0003169157,0.0002194379],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001199963,"about_ca_system_score_gemma":0.0001330905,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008179305,"about_ca_topic_score_gemma":0.0005571375,"domain_scores_codex":[0.9998487,0.00003009164,0.00002180306,0.00004499619,0.00002832453,0.0000259639],"domain_scores_gemma":[0.9995151,0.0001331321,0.0001594575,0.00003512464,0.00006098572,0.00009625404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0005352653,0.00008995657,0.9421456,0.00002871442,0.0000544776,0.01687975,0.0003757505,0.0002526304,0.01943463,0.00008966176,0.0002318289,0.01988172],"study_design_scores_gemma":[0.0000209602,0.0006243364,0.9135575,0.00001335966,0.00008273099,0.08089142,0.0002721761,0.0006266378,0.002730686,0.0001488601,0.001017495,0.00001394491],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992639,0.0001738103,0.0002776633,0.00002259123,0.000002548351,0.000002917527,0.00008120339,0.000009377554,0.0001659322],"genre_scores_gemma":[0.9992433,0.000116259,0.0002271374,0.0000193347,0.000008883024,0.000002746913,0.0002289665,0.000004914203,0.000148465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009662336,"threshold_uncertainty_score":0.00323236,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005551548505056583,"score_gpt":0.24653833270947,"score_spread":0.2409867842044134,"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."}}