{"id":"W340598439","doi":"10.1055/s-2003-44668","title":"Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K","year":2003,"lang":"en","type":"article","venue":"Neuropediatrics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Philipps-Universität Marburg; Ryerson University","keywords":"Sphingomyelin; Medicine; Niemann–Pick disease; Acid sphingomyelinase; Sphingomyelin phosphodiesterase; Internal medicine; Gastroenterology; Ataxia; Disease; Pediatrics; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001039163,0.0001710608,0.0002685083,0.0001101863,0.0001089289,0.0000463688,0.0002179526,0.00007544128,0.00001836],"category_scores_gemma":[0.01453194,0.00009692262,0.00005043228,0.001416142,0.0001861361,0.0000690393,0.00005279211,0.0004101259,0.00001135659],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003736708,"about_ca_system_score_gemma":0.00035705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001559312,"about_ca_topic_score_gemma":0.00005046705,"domain_scores_codex":[0.9974847,0.0007247741,0.0004295669,0.0003134674,0.0007463871,0.0003010405],"domain_scores_gemma":[0.9970779,0.001517529,0.0002318519,0.0004130685,0.0005984418,0.0001611875],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000382356,0.001145523,0.9943759,0.0002181005,0.00002622532,0.001261348,0.0008619679,0.0002127328,0.00004547212,0.0001120331,0.0009325983,0.0004257323],"study_design_scores_gemma":[0.0036871,0.002398417,0.989405,0.0001189206,0.0005183833,0.00004298954,0.001182683,0.0006548255,0.00008950534,0.0001373058,0.001424251,0.0003406109],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956847,0.001844221,0.00002833179,0.001369769,0.00004170222,0.0007532264,0.00003601025,0.00002423251,0.0002177439],"genre_scores_gemma":[0.9972508,0.0009900098,0.00006805301,0.001515631,0.00004590585,0.00004985012,0.00001219114,0.0000333942,0.000034198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01349278,"threshold_uncertainty_score":0.993769,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02301798769687955,"score_gpt":0.2836275342598605,"score_spread":0.2606095465629809,"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."}}