{"id":"W199097522","doi":"10.1007/8904_2014_295","title":"Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?","year":2014,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Ministero della Salute; University of Oxford; Fondazione Telethon; E-Rare; Fondazione Pierfranco e Luisa Mariani; Bundesministerium für Bildung und Forschung; BC Children's Hospital; Children's Hospital Foundation; State Government of Victoria; University of Pittsburgh","keywords":"Aromatic L-amino acid decarboxylase; 5-Hydroxytryptophan; Medicine; Disease; Internal medicine; Pediatrics; Endocrinology; Dopamine; Serotonin","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004457254,0.001205023,0.0007089907,0.001454152,0.001611483,0.001085413,0.001231678,0.004719495,0.002374181],"category_scores_gemma":[0.004191915,0.0007759043,0.0008374334,0.0006052367,0.001613302,0.0009884312,0.001077583,0.002610726,0.000982996],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004905674,"about_ca_system_score_gemma":0.000440864,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00210063,"about_ca_topic_score_gemma":0.001798031,"domain_scores_codex":[0.9994735,0.00007909562,0.00007540896,0.0001723301,0.0000920606,0.0001075963],"domain_scores_gemma":[0.9971437,0.0009504118,0.0003687734,0.0002621457,0.0002517597,0.001023259],"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":[0.0000787262,0.0001255227,0.02508871,0.00002947085,0.00002083327,0.9673569,0.0008060756,0.00005654608,0.002448927,0.0004854802,0.0005543625,0.002948557],"study_design_scores_gemma":[0.00001379873,0.0001843662,0.01217099,0.00001164607,0.00001971007,0.9853534,0.0002625389,0.0001050942,0.0005845593,0.0001774976,0.001103043,0.000013274],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9782587,0.002335873,0.00219509,0.00365366,0.0006856234,0.00007473592,0.0002595235,0.0001243947,0.01241253],"genre_scores_gemma":[0.9912677,0.0009987688,0.001049204,0.00139599,0.0004553823,0.00001861798,0.0001615183,0.00004891277,0.004603805],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004719495,"threshold_uncertainty_score":0.007942379,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006431996986270025,"score_gpt":0.2230261791101745,"score_spread":0.2165941821239045,"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."}}