{"id":"W2122824531","doi":"10.1186/1750-1172-8-98","title":"Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; McGill University and Génome Québec Innovation Centre; University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"University of Toronto; Canadian Institutes of Health Research; Vrije Universiteit Amsterdam; Université de Montréal; Ontario Genomics Institute; Génome Québec; Genome British Columbia; Government of Canada; University of Ottawa; McGill University; Ontario Genomics; Genome Canada","keywords":"Newborn screening; Sanger sequencing; Methylmalonic aciduria; Exome sequencing; Exon; Inborn error of metabolism; Phenotype; Methylmalonic acid; Compound heterozygosity; Methylmalonic acidemia; Enzyme; Amino acid; Genetics; Biochemistry; Chemistry; Gene; Mutation; Biology; Endocrinology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002761487,0.002355451,0.0004896137,0.00131501,0.0005638438,0.0003831245,0.0005725559,0.00154078,0.002233901],"category_scores_gemma":[0.001052257,0.000342479,0.0004139302,0.0009631348,0.001320309,0.0003205008,0.0006612965,0.0008521452,0.0005163997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000285319,"about_ca_system_score_gemma":0.0002459773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007635062,"about_ca_topic_score_gemma":0.000666791,"domain_scores_codex":[0.9995149,0.00006169824,0.0000693717,0.0001583369,0.000123429,0.00007226543],"domain_scores_gemma":[0.9989948,0.000326131,0.0004519451,0.00003018332,0.00004289878,0.0001541172],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001051498,0.0001598329,0.1025224,0.0004040117,0.0002619681,0.7458329,0.00108769,0.0007329163,0.1329407,0.0005387917,0.000976986,0.0134902],"study_design_scores_gemma":[0.00005202727,0.0002764514,0.1326029,0.00006478357,0.0001706431,0.8365034,0.0002410868,0.0006645894,0.02679622,0.0003033676,0.002292787,0.00003164724],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949346,0.001152105,0.001803448,0.0002575626,0.00006303709,0.00003118298,0.0003551189,0.0001808738,0.001222101],"genre_scores_gemma":[0.9977806,0.0003939838,0.001016354,0.00006761366,0.00006990106,0.00001107365,0.000183144,0.00002238542,0.0004548922],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002355451,"threshold_uncertainty_score":0.007473111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006596434823529325,"score_gpt":0.230036689435009,"score_spread":0.2234402546114796,"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."}}