{"id":"W3089091913","doi":"10.1530/edm-20-0128","title":"Late infantile form of multiple sulfatase deficiency","year":2020,"lang":"en","type":"article","venue":"Endocrinology Diabetes and Metabolism Case Reports","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"","keywords":"Medicine; Pediatrics; Hypotonia; Disease; Girl; Differential diagnosis; Pathognomonic; Internal medicine; Psychology; Pathology; Developmental 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001480921,0.001173135,0.0006053258,0.0005298276,0.0004745332,0.0002962417,0.0004622236,0.001051294,0.003321225],"category_scores_gemma":[0.0009306548,0.0001587508,0.000282504,0.0002973571,0.00030631,0.0004574356,0.0004336036,0.001215605,0.0007627774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003727089,"about_ca_system_score_gemma":0.0003401862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008312672,"about_ca_topic_score_gemma":0.0008700523,"domain_scores_codex":[0.9998488,0.00001692818,0.000018966,0.00003671481,0.00003315025,0.0000454531],"domain_scores_gemma":[0.9996961,0.00005403508,0.0000855804,0.00001710102,0.00004147727,0.0001056979],"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":[0.0001047508,0.00006324532,0.01830124,0.0001070428,0.0000147412,0.9667252,0.0002112212,0.00009144611,0.005226357,0.0005134823,0.001607287,0.007034004],"study_design_scores_gemma":[0.000009676206,0.0001790403,0.01185077,0.00003192039,0.0000155645,0.9833373,0.00006614089,0.0001774151,0.001534759,0.0001498518,0.002638129,0.000009383771],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9678908,0.004218692,0.004147866,0.002685803,0.0003626308,0.0001290424,0.000655219,0.0004463571,0.01946356],"genre_scores_gemma":[0.9936283,0.0007909291,0.001104648,0.0006226692,0.000166088,0.00001930668,0.0002017166,0.00002975286,0.003436609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003321225,"threshold_uncertainty_score":0.0111106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01956971716792581,"score_gpt":0.2722544468658792,"score_spread":0.2526847296979534,"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."}}