{"id":"W2177377315","doi":"10.1373/clinchem.2015.245159","title":"Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples","year":2015,"lang":"en","type":"article","venue":"Clinical Chemistry","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke; Université de Sherbrooke","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; BioMarin Pharmaceutical; Shire; National Institutes of Health; PerkinElmer; Genzyme","keywords":"Metachromatic leukodystrophy; Arylsulfatase A; Dried blood spot; Urine; Newborn screening; Medicine; Internal medicine; Chromatography; Chemistry; Endocrinology; Biochemistry; Pathology","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":[0.0008911608,0.0001419066,0.0008409612,0.0000915231,0.00001867396,0.00001518051,0.0001471124,0.0001593677,0.00004912715],"category_scores_gemma":[0.003504229,0.0001306926,0.000251604,0.0006341524,0.0002224925,0.00003874777,0.00009831787,0.0003028077,6.525363e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000034088,"about_ca_system_score_gemma":0.0001017373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005777023,"about_ca_topic_score_gemma":0.000003648026,"domain_scores_codex":[0.9982079,0.00004967301,0.0007451485,0.0003790578,0.0003471567,0.0002710584],"domain_scores_gemma":[0.9984306,0.0005740495,0.0001683843,0.0003512106,0.0001464132,0.0003293724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004463014,0.0005452143,0.8867626,0.0005254016,0.001236979,0.00002647097,0.00003211473,0.00001607169,0.1098324,0.000007594761,0.0001802248,0.0003885623],"study_design_scores_gemma":[0.03612234,0.001955637,0.3471915,0.000335474,0.007611519,0.00004180703,0.001607426,0.01540417,0.5861747,0.002399343,0.0002889239,0.0008671423],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929207,0.000709805,0.005384884,0.0003595943,0.000008200283,0.0002337492,0.00003752702,0.00002033539,0.0003251815],"genre_scores_gemma":[0.9745068,0.00003772892,0.02498275,0.0000334355,0.00006329585,0.00002323912,0.0001236302,0.00001762647,0.0002114835],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.539571,"threshold_uncertainty_score":0.532949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08950449822829586,"score_gpt":0.3878700508411229,"score_spread":0.298365552612827,"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."}}