{"id":"W2405084476","doi":"10.1017/s0317167100120931","title":"Isolated Peripheral Neuropathy in Atypical Metachromatic Leukodystrophy: A Recurrent Mutation","year":2002,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Metachromatic leukodystrophy; Arylsulfatase A; Arylsulfatase; Sural nerve; Peripheral neuropathy; Pathology; Mutation; Peripheral nervous system; Central nervous system; Endocrinology; Biology; Medicine; Internal medicine; Gene; Genetics; Enzyme; Biochemistry; Diabetes mellitus","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.002326284,0.0003225634,0.0006334565,0.001328584,0.001234708,0.0005363715,0.001212613,0.0001864855,0.0004122906],"category_scores_gemma":[0.003199165,0.0002218348,0.0002783653,0.002109863,0.004249649,0.0008370974,0.0000705128,0.001921113,0.000007640126],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005794124,"about_ca_system_score_gemma":0.002076587,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008942252,"about_ca_topic_score_gemma":0.02091711,"domain_scores_codex":[0.994695,0.001240562,0.001039599,0.0005432674,0.001054846,0.001426717],"domain_scores_gemma":[0.996553,0.0003060747,0.0004876449,0.0001529546,0.000505264,0.001995041],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000535207,0.0002062187,0.9193279,0.00002760187,0.00002389091,0.05212206,0.001183726,0.006477774,0.0001821947,0.0002635376,0.0002355953,0.01941431],"study_design_scores_gemma":[0.0015778,0.1663822,0.550751,0.0001189616,0.00007654267,0.1068659,0.0004791229,0.1635732,0.00005003004,0.009236681,0.0003996661,0.0004889983],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891873,0.001805197,0.00007740905,0.00737568,0.0004507763,0.0002849952,0.000003519084,0.00001888309,0.0007962112],"genre_scores_gemma":[0.9966282,0.0002539937,0.001184467,0.001748023,0.0001494439,0.000004570221,3.14365e-7,0.00001377061,0.00001721415],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3685769,"threshold_uncertainty_score":0.9984602,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04978906622466239,"score_gpt":0.2956312889091655,"score_spread":0.2458422226845031,"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."}}