{"id":"W4412727968","doi":"10.1016/j.ymgmr.2025.101242","title":"Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature","year":2025,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; London Health Sciences Centre; Western University","funders":"","keywords":"Medicine; Hematopoietic stem cell transplantation; Proband; Sibling; Pediatrics; Disease; Transplantation; Internal medicine; Psychology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002855002,0.000172947,0.0005677504,0.0001605227,0.00003376431,0.00001813247,0.00004827048,0.00005412511,0.000005264244],"category_scores_gemma":[0.0000264557,0.0001337804,0.0001336576,0.0004298377,0.00007292334,0.00002503482,0.00004079443,0.0001153659,8.497427e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005602594,"about_ca_system_score_gemma":0.0001401673,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001238362,"about_ca_topic_score_gemma":0.00000155121,"domain_scores_codex":[0.9985139,0.00006004969,0.0005332625,0.0003243427,0.0003987401,0.0001696488],"domain_scores_gemma":[0.9990761,0.00001978194,0.0001614519,0.0003744498,0.0001974705,0.0001707171],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003537596,0.0004352174,0.7892653,0.08483982,0.0007805426,0.01738196,0.001258907,0.00007032004,0.09712931,0.0003194651,0.00006736472,0.008098075],"study_design_scores_gemma":[0.01087669,0.0004998306,0.606907,0.04109166,0.01418294,0.002619674,0.0002384793,0.0001446341,0.3130088,0.002217434,0.0068857,0.001327252],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6429266,0.3558887,0.0004135835,0.0001696506,0.00003403685,0.0004095467,0.000009087461,0.000005712093,0.0001431768],"genre_scores_gemma":[0.9548124,0.04348413,0.0009843456,0.000420181,0.000005534202,0.00002102957,0.00003753576,0.00001927198,0.0002155681],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3124045,"threshold_uncertainty_score":0.5455406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008800369993640813,"score_gpt":0.2884102883945852,"score_spread":0.2796099184009444,"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."}}