{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001426932,0.0002141769,0.0007829099,0.0002211565,0.00006398772,0.00003212218,0.0003285033,0.000122679,0.00005732226],"category_scores_gemma":[0.01306915,0.0001345521,0.0003164268,0.0008512373,0.0003790716,0.0001203577,0.0001203115,0.0006026998,0.00001013367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000304157,"about_ca_system_score_gemma":0.0005687264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002220638,"about_ca_topic_score_gemma":0.000004159326,"domain_scores_codex":[0.9968907,0.0005033982,0.001139518,0.0002963099,0.0008213743,0.0003487274],"domain_scores_gemma":[0.9967783,0.001063936,0.000485801,0.0003760076,0.0004239475,0.000872001],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0221938,0.01016083,0.6261958,0.001886378,0.0007354941,0.0217112,0.004606971,0.00002380177,0.2448031,0.0002966566,0.0334448,0.03394111],"study_design_scores_gemma":[0.00813885,0.002614227,0.9131842,0.0007525723,0.001196413,0.0005766474,0.001076634,0.0003789108,0.01051926,0.00006790052,0.0613582,0.000136248],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977459,0.01807345,0.00001244327,0.003869266,0.00008511251,0.000341899,0.00005515175,0.000007632635,0.00009603753],"genre_scores_gemma":[0.99172,0.006143251,0.0002264709,0.001419799,0.0003547261,0.00001545718,0.00001130505,0.00002531153,0.00008366611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2869883,"threshold_uncertainty_score":0.9952442,"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."}}