{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002749914,0.0006601699,0.001042398,0.00222413,0.0006475263,0.0009665774,0.001057009,0.001636266,0.001609376],"category_scores_gemma":[0.001264098,0.0002378665,0.0005542191,0.002340629,0.0008697506,0.001168735,0.0006024818,0.0009676182,0.0006986993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000434737,"about_ca_system_score_gemma":0.0006458527,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000722999,"about_ca_topic_score_gemma":0.0009938097,"domain_scores_codex":[0.9996672,0.00003355482,0.0001580335,0.00005296669,0.00005264173,0.00003562458],"domain_scores_gemma":[0.9991278,0.0004273511,0.0002510559,0.00004398176,0.00007479011,0.00007502499],"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":[0.0001105229,0.000141987,0.01236221,0.009028682,0.0002110296,0.8114083,0.0007433575,0.0003816011,0.002412069,0.001345495,0.0139192,0.1479357],"study_design_scores_gemma":[0.00001305876,0.00006051556,0.005732346,0.0021341,0.000249261,0.9444942,0.0004851922,0.0001453888,0.0009348469,0.0005156077,0.04519957,0.0000358309],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.0452309,0.9411457,0.00144044,0.002457202,0.00130403,0.00005938743,0.0001876449,0.00006546537,0.008109199],"genre_scores_gemma":[0.251163,0.7389076,0.001765433,0.002544517,0.003453337,0.00004635179,0.0003648334,0.0000297616,0.00172523],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00222413,"threshold_uncertainty_score":0.005383909,"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."}}