{"id":"W3110881213","doi":"10.1002/jimd.12338","title":"Cystathionine β‐synthase deficiency in the <scp>E‐HOD registry‐part</scp> I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Perelman School of Medicine, University of Pennsylvania; Všeobecná Fakultní Nemocnice v Praze; Cliniques Universitaires Saint-Luc; Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y Nutrición; Vlaamse regering; Assistance publique-Hôpitaux de Paris; Universidade Federal de Minas Gerais; Directorate for Biological Sciences; Universidad de Las Palmas de Gran Canaria; Ministerstvo Zdravotnictví Ceské Republiky; European Commission; Universidade Federal do Rio Grande do Sul; Universidad de Cantabria; Hospital de Clínicas de Porto Alegre; National Taiwan University Hospital; Birmingham Women's and Children's NHS Foundation Trust; Universiteit Maastricht; Gentofte Hospital; Institut National de la Santé et de la Recherche Médicale; Universidade Estadual de Campinas; Ospedale Pediatrico Bambino Gesù; Université de Lausanne; Rare Disease Foundation; Alder Hey Children's NHS Foundation Trust; Radboud Universiteit; Swedish Orphan Biovitrum; University of Pennsylvania; Vitaflo; Children's National Hospital; Children's Hospital of Philadelphia; National Taiwan University; Institut des maladies génétiques Imagine; Univerzita Karlova v Praze","keywords":"Cystathionine beta synthase; Pyridoxine; Homocystinuria; Phenotype; Medicine; Genetics; Biology; Endocrinology; Bioinformatics; Biochemistry; Enzyme; Gene; Cysteine; Amino acid","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":[0.0009944253,0.0001849951,0.0003363185,0.001008405,0.0002604935,0.0006801226,0.0002565315,0.000200277,0.001570406],"category_scores_gemma":[0.001785527,0.0001846058,0.0002443292,0.001199484,0.0001908024,0.0002736987,0.000551805,0.0002659477,0.0004143469],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002458151,"about_ca_system_score_gemma":0.0003732768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005810421,"about_ca_topic_score_gemma":0.00626201,"domain_scores_codex":[0.9994778,0.0001680494,0.00009079195,0.00009293155,0.00007726134,0.0000932011],"domain_scores_gemma":[0.9986438,0.0002345445,0.0005468425,0.0002089823,0.000142589,0.0002232652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002040653,0.00001340246,0.9972019,0.000009735651,0.00001854501,0.0003698401,0.0001038582,0.00003502183,0.0003523055,0.00001401072,0.000210243,0.001467008],"study_design_scores_gemma":[0.00001782785,0.0001071641,0.9967703,0.000007658556,0.00003442207,0.001761395,0.0002152849,0.0001122973,0.0002925717,0.00001517138,0.0006616134,0.000004270139],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986027,0.00009248175,0.0000595383,0.00001604689,0.000001615387,0.000009924612,0.0008625305,0.000006547936,0.0003485758],"genre_scores_gemma":[0.9973653,0.0000706964,0.0001115835,0.00001223981,0.000004882538,0.00001497587,0.002216983,0.000004257935,0.0001991667],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005810421,"threshold_uncertainty_score":0.01155317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04518804847658096,"score_gpt":0.3525156982103273,"score_spread":0.3073276497337463,"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."}}