{"id":"W2978901241","doi":"10.1002/jmd2.12008","title":"Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review","year":2019,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Université Laval; McGill Genome Centre; McGill University; McGill University Health Centre","funders":"Pediatric Oncology Group of Ontario","keywords":"Medicine; Hematopoietic stem cell transplantation; Disease; Hematopoietic stem cell; Stem cell; Pediatrics; Haematopoiesis; Acid sphingomyelinase; Central nervous system; Internal medicine; Biology; Cholesterol; Sphingomyelin","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004365574,0.0002000055,0.0004479887,0.00008388785,0.00003514835,0.00003916883,0.00003549031,0.0001001735,0.00008185524],"category_scores_gemma":[0.00005346261,0.0001122103,0.00006776564,0.0002380986,0.00004553271,0.0001709785,0.00003545081,0.0003228038,0.000004388372],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002886719,"about_ca_system_score_gemma":0.0001210331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000191705,"about_ca_topic_score_gemma":0.00002771755,"domain_scores_codex":[0.9979476,0.0001021297,0.0005857377,0.0006020271,0.0004992905,0.0002632433],"domain_scores_gemma":[0.9988213,0.00004164932,0.0002121276,0.0005832114,0.0000990852,0.0002426653],"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":[0.0002875447,0.0001778204,0.1909089,0.004244789,0.00001149188,0.8023438,0.0002624014,0.000001263083,0.001109758,0.000001271811,0.00005061077,0.0006003728],"study_design_scores_gemma":[0.001111757,0.000598548,0.09976961,0.006882033,0.0002051886,0.8882431,0.00005286124,0.000076589,0.001296962,0.00002282114,0.001387116,0.0003533486],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9791028,0.01753835,0.000005171827,0.001289656,0.0000800348,0.001773042,0.000006832102,0.00003498862,0.000169155],"genre_scores_gemma":[0.9950384,0.002455962,0.00004427343,0.0005346509,0.00002482871,0.00009930145,0.00004660505,0.00002334394,0.001732578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09113929,"threshold_uncertainty_score":0.4575805,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009516218711245649,"score_gpt":0.267572391516708,"score_spread":0.2580561728054623,"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."}}