{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002383552,0.0002674719,0.0003089404,0.0001550161,0.00005059398,0.00002128067,0.00007702675,0.0001817157,0.00002181193],"category_scores_gemma":[0.00007903522,0.0002378529,0.00005479893,0.0004543721,0.0001024208,0.00001459334,0.00007288512,0.0001476865,0.000001662942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001734908,"about_ca_system_score_gemma":0.0002014303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005577691,"about_ca_topic_score_gemma":0.000232993,"domain_scores_codex":[0.9979558,0.00006353854,0.00068773,0.0006420969,0.0003488265,0.000302038],"domain_scores_gemma":[0.9990171,0.00001970666,0.0003190633,0.0003513652,0.000200711,0.00009203028],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002213447,0.0002143579,0.1698758,0.00007256246,0.00005103072,0.0001907135,0.0003229216,0.0005519189,0.8280928,0.000008534229,0.00004942501,0.0003486112],"study_design_scores_gemma":[0.00304959,0.001896908,0.3031656,0.0001030684,0.00007995697,0.001086517,0.0005826678,0.0002139192,0.6855297,0.00002481247,0.003541853,0.0007254021],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978901,0.0007528285,0.00006198841,0.00005643475,0.0001320403,0.000644864,0.00001750395,0.00001509303,0.0004291245],"genre_scores_gemma":[0.9988602,0.0001275177,0.0005660136,0.00007847763,0.000004800587,0.00003559937,0.0001539957,0.00003973011,0.0001336784],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.142563,"threshold_uncertainty_score":0.969936,"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."}}