{"id":"W2963974185","doi":"10.1002/jmd2.12064","title":"Transiently elevated plasma methionine, <i>S</i>‐adenosylmethionine and <i>S</i>‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation","year":2019,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Inborn error of metabolism; Cystathionine beta synthase; Methionine; Hypotonia; Internal medicine; Endocrinology; Homocysteine; Homocystinuria; Medicine; Exon; Microcephaly; Biology; Genetics; Pediatrics; 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":[0.0001404037,0.001003396,0.0005478956,0.0009932313,0.0006820214,0.0004714226,0.0003524638,0.001475424,0.001213749],"category_scores_gemma":[0.0008628935,0.0003316202,0.0003147508,0.0004376963,0.0005539295,0.0004193336,0.0003664542,0.000935294,0.0003181202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003777567,"about_ca_system_score_gemma":0.0002211472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001513036,"about_ca_topic_score_gemma":0.001149694,"domain_scores_codex":[0.9998068,0.00002424119,0.00002459674,0.00007106139,0.00003089026,0.00004253054],"domain_scores_gemma":[0.9995408,0.0001348096,0.00008873665,0.00002009644,0.0000297981,0.0001857183],"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":[0.0006968136,0.0001133023,0.08543601,0.00009359565,0.00003807923,0.8599722,0.001023789,0.0001767323,0.04847576,0.0001254875,0.0003346747,0.003513535],"study_design_scores_gemma":[0.00004423509,0.001243124,0.1056447,0.00002828989,0.00009265944,0.8719988,0.000455129,0.0008389784,0.01792233,0.0001716449,0.001526168,0.00003397696],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968854,0.0007888692,0.0004514601,0.0002627087,0.0000292634,0.0000188305,0.0002032467,0.00006770694,0.001292545],"genre_scores_gemma":[0.9991543,0.0001875364,0.0001753727,0.00008261677,0.00002343382,0.000004521682,0.00007665801,0.000008188988,0.0002872391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001513036,"threshold_uncertainty_score":0.004060447,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002945602709712213,"score_gpt":0.1902674853126634,"score_spread":0.1873218826029512,"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."}}