{"id":"W1537453399","doi":"10.1186/s13023-015-0321-y","title":"Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes","year":2015,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Center for Advancing Translational Sciences; National Institute of Mental Health; U.S. Department of Health and Human Services; National Institutes of Health; European Commission; Harvey Mudd College; Strong","keywords":"Cystathionine beta synthase; Methionine; Heterozygote advantage; Homocystinuria; Compound heterozygosity; Methionine synthase; Homocysteine; Methionine Adenosyltransferase; Newborn screening; Biology; Allele; Genetics; Human genetics; Genotype; Protein subunit; Internal medicine; Biochemistry; Medicine; Gene; Amino acid","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001275101,0.0003295534,0.0006168449,0.003798262,0.0003491074,0.0006263288,0.0002914526,0.0005044689,0.001379811],"category_scores_gemma":[0.003558135,0.00018564,0.0003608151,0.002604303,0.0004563082,0.0006561643,0.000554506,0.0002757932,0.0004033099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001500167,"about_ca_system_score_gemma":0.0001884401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007376648,"about_ca_topic_score_gemma":0.0006672872,"domain_scores_codex":[0.9988959,0.0002241659,0.0003128781,0.0002473569,0.0002220045,0.00009770553],"domain_scores_gemma":[0.9964551,0.001557978,0.001011798,0.0001961666,0.0003687567,0.0004103067],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002968281,0.00002666101,0.9865276,0.00006037311,0.00006069907,0.0006209526,0.000173389,0.00002511075,0.0008341058,0.00001954965,0.0002216034,0.01113319],"study_design_scores_gemma":[0.00001172956,0.000373231,0.9888484,0.00004648063,0.0000743197,0.008325255,0.0004698252,0.00005586518,0.0003329549,0.00002806678,0.001424661,0.000009146062],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9930568,0.005163058,0.0002215402,0.0001140492,0.00001350006,0.00001142172,0.0007519264,0.00001570159,0.0006520551],"genre_scores_gemma":[0.9959959,0.002428447,0.0002436268,0.00009157438,0.00003372706,0.00001381864,0.001078282,0.000008073148,0.0001065486],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.003798262,"threshold_uncertainty_score":0.006743491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1830762982787777,"score_gpt":0.4206303017293043,"score_spread":0.2375540034505266,"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."}}