{"id":"W4411704999","doi":"10.1002/ccr3.9660","title":"Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase ( <scp>MTHFR</scp> ) Deficiency in Childhood: A Case Series","year":2025,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Children's Health Foundation","keywords":"Medicine; Methylenetetrahydrofolate reductase; Pediatrics; Newborn screening; Hypotonia; Global developmental delay; Microcephaly; Genotype; Phenotype; Genetics","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":[0.0005439112,0.002036839,0.00114121,0.003287894,0.002363494,0.001659303,0.001099341,0.002694472,0.002120289],"category_scores_gemma":[0.002745442,0.001101056,0.0009800148,0.002341923,0.00212833,0.001485827,0.002191058,0.002452593,0.0008108547],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001304924,"about_ca_system_score_gemma":0.001107614,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004466887,"about_ca_topic_score_gemma":0.00634,"domain_scores_codex":[0.9988369,0.0001472569,0.0001929367,0.0002517223,0.000221211,0.0003499918],"domain_scores_gemma":[0.9979872,0.0006663508,0.0005309327,0.0001579696,0.000171145,0.000486421],"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":[0.0000250925,0.00005388027,0.0187263,0.0000565486,0.00001254806,0.9766225,0.0004616115,0.00007498785,0.0005952411,0.0001336724,0.0003764132,0.002861205],"study_design_scores_gemma":[0.000003343388,0.00002407297,0.004799533,0.00001849044,0.00001254089,0.9941147,0.0001861286,0.00004745014,0.0002095048,0.00004947581,0.000527203,0.000007501097],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9708543,0.01112795,0.00385887,0.001340209,0.0003067064,0.0003302831,0.0003494718,0.0001497977,0.01168248],"genre_scores_gemma":[0.9906179,0.005040466,0.001962165,0.0005171349,0.0004113718,0.00004536382,0.0001618976,0.00004661841,0.001196935],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004466887,"threshold_uncertainty_score":0.009467959,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03895299956399662,"score_gpt":0.3849083590500493,"score_spread":0.3459553594860527,"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."}}