{"id":"W2080268231","doi":"10.1016/j.ymgme.2007.09.011","title":"Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands","year":2007,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal","funders":"","keywords":"Broad spectrum; Disease; Genetics; Spectrum (functional analysis); Type (biology); Medicine; Biology; Internal medicine; Chemistry; Physics; Ecology; Combinatorial chemistry","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":[0.0003769942,0.0006528426,0.0006330868,0.001770155,0.0009682375,0.0008174665,0.0005815795,0.000633943,0.004241142],"category_scores_gemma":[0.001924329,0.0004217083,0.0003178292,0.001865809,0.0009606576,0.0003888517,0.0008264895,0.0003406176,0.0004096671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001119587,"about_ca_system_score_gemma":0.001425603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07459074,"about_ca_topic_score_gemma":0.04284177,"domain_scores_codex":[0.9994372,0.00009479857,0.00009063064,0.0001630695,0.00007876748,0.0001355086],"domain_scores_gemma":[0.9993407,0.0001495451,0.0001547233,0.00002086567,0.0001131287,0.0002209352],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002420167,0.0007320552,0.7440715,0.0002496432,0.0003160339,0.2092953,0.007242994,0.0007124583,0.009934154,0.001477084,0.00367143,0.0198772],"study_design_scores_gemma":[0.0002680642,0.0004050741,0.8262737,0.0001481843,0.0002372013,0.1621269,0.004011481,0.0006469579,0.0009058302,0.0005690054,0.004333858,0.00007381761],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960828,0.0003976125,0.00007606411,0.0000909686,0.000009393581,0.00002661589,0.0005248002,0.000003803416,0.00278799],"genre_scores_gemma":[0.9976019,0.000434655,0.0001414313,0.0000597794,0.00001714673,0.00002062853,0.0004743498,0.00001117894,0.001238965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07459074,"threshold_uncertainty_score":0.1483132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02014435920257966,"score_gpt":0.3306028293806669,"score_spread":0.3104584701780873,"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."}}