{"id":"W4400146599","doi":"10.1016/j.ymgme.2024.108521","title":"Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre; Centre Hospitalier Universitaire Sainte-Justine; Université Laval; Hôpital Charles-Le Moyne","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Advancing Translational Sciences; Fonds de Recherche du Québec - Santé; Rare Diseases Clinical Research Network; National Institutes of Health; National Institute of Neurological Disorders and Stroke; Department of Health and Aged Care, Australian Government; Deutsche Forschungsgemeinschaft; Canadian Institutes of Health Research","keywords":"Metachromatic leukodystrophy; Leukodystrophy; Neuroscience; Medicine; Physical medicine and rehabilitation; Psychology; Internal medicine; Pathology; Disease","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":[0.0002681827,0.0004431775,0.0004409682,0.001201128,0.0002176961,0.0003666764,0.0003756949,0.0006159683,0.00273898],"category_scores_gemma":[0.003458575,0.0002405678,0.0001635169,0.0005456601,0.0005139643,0.000361587,0.0004444428,0.0004692528,0.0005028989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002682211,"about_ca_system_score_gemma":0.0003453205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002239846,"about_ca_topic_score_gemma":0.002638523,"domain_scores_codex":[0.9998313,0.00002587175,0.00002159025,0.00003532723,0.00003480558,0.00005105012],"domain_scores_gemma":[0.9981492,0.0009091921,0.0005973362,0.0000666194,0.0001088097,0.0001690112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.003864574,0.000178263,0.4080366,0.0003848253,0.00008222986,0.4555006,0.0004759651,0.0007593471,0.08739188,0.001664924,0.001869697,0.03979112],"study_design_scores_gemma":[0.00004383034,0.0005263255,0.5987796,0.00006406224,0.00008961936,0.3842232,0.000307149,0.0004533032,0.0121489,0.0007992671,0.002536599,0.00002810682],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931135,0.001241129,0.000597138,0.0001897833,0.00003079233,0.00001669932,0.0003095591,0.00006396788,0.004437396],"genre_scores_gemma":[0.9983767,0.0005202869,0.0002917911,0.00003689279,0.00002351247,0.000005722605,0.0001706605,0.00001058809,0.0005636453],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00273898,"threshold_uncertainty_score":0.009162784,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01463722754684117,"score_gpt":0.276773294739649,"score_spread":0.2621360671928078,"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."}}