{"id":"W1990591430","doi":"10.1038/gim.2013.157","title":"Phenylalanine hydroxylase deficiency: diagnosis and management guideline","year":2014,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":722,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Agency for Healthcare Research and Quality; National Institutes of Health","keywords":"Phenylalanine hydroxylase; Medicine; Guideline; Phenylalanine; Inborn error of metabolism; Newborn screening; Disease; Population; Pediatrics; Psychiatry; Intensive care medicine; Endocrinology; Internal medicine; Pathology; Biology; Genetics","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009654485124319311,"score_gpt":0.2710926278994952,"score_spread":0.2614381427751759,"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."}}