{"id":"W4402497483","doi":"10.3389/fgene.2024.1464556","title":"Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns","year":2024,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"IONICS Mass Spectrometry (Canada)","funders":"","keywords":"Biology; Genetics","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":[0.0003595885,0.002380658,0.001364973,0.002502293,0.0016937,0.001398819,0.001436662,0.006247328,0.002342372],"category_scores_gemma":[0.002815514,0.0008804154,0.001496916,0.0008860899,0.00167294,0.001573123,0.00168883,0.003639765,0.0008549836],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001392678,"about_ca_system_score_gemma":0.0009074208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003640929,"about_ca_topic_score_gemma":0.002575808,"domain_scores_codex":[0.9993609,0.00007552712,0.00008491499,0.0002398576,0.00007728487,0.0001614507],"domain_scores_gemma":[0.9987813,0.0004314045,0.0002052268,0.00008206414,0.00007679392,0.0004231903],"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":[0.00001754414,0.00001321075,0.002976029,0.0000339996,0.000007274851,0.9943455,0.0001767224,0.0000568306,0.0005386953,0.0002274222,0.00039468,0.001212167],"study_design_scores_gemma":[0.000002316967,0.00001862989,0.001119023,0.00001934414,0.000007497488,0.9976442,0.00006738646,0.00006773812,0.000342542,0.000128281,0.0005709213,0.00001207387],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9320547,0.02175471,0.01299951,0.01558068,0.002439048,0.0003771035,0.001623845,0.0007846991,0.01238571],"genre_scores_gemma":[0.9835999,0.005493775,0.004207825,0.002289813,0.001465647,0.00007176335,0.0002506634,0.00009282317,0.00252771],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006247328,"threshold_uncertainty_score":0.01010466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00848379750064013,"score_gpt":0.2536878332077991,"score_spread":0.245204035707159,"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."}}