{"cited_by_count":1340801,"description":"This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.","display_name":"Metabolism and Genetic Disorders","domain_id":"1","external_ids":{"openalex":"https://openalex.org/T11027","wikipedia":"https://en.wikipedia.org/wiki/Metabolic_disorder"},"field_id":"13","id":"T11027","keywords":[{"display_name":"inborn errors of metabolism","id":"inborn-errors-of-metabolism","score":0.6704,"url":"https://openalex.org/keywords/inborn-errors-of-metabolism"},{"display_name":"phenylketonuria","id":"phenylketonuria","score":0.7847,"url":"https://openalex.org/keywords/phenylketonuria"},{"display_name":"newborn screening","id":"newborn-screening","score":0.2964,"url":"https://openalex.org/keywords/newborn-screening"},{"display_name":"hyperammonemia","id":"hyperammonemia","score":0.337,"url":"https://openalex.org/keywords/hyperammonemia"},{"display_name":"urea cycle disorders","id":"urea-cycle-disorders","score":0.7414,"url":"https://openalex.org/keywords/urea-cycle-disorders"},{"display_name":"methylmalonic acidemia","id":"methylmalonic-acidemia","score":0.7855,"url":"https://openalex.org/keywords/methylmalonic-acidemia"},{"display_name":"galactosemia","id":"galactosemia","score":0.6813,"url":"https://openalex.org/keywords/galactosemia"},{"display_name":"hyperphenylalaninemia","id":"hyperphenylalaninemia","score":0.898,"url":"https://openalex.org/keywords/hyperphenylalaninemia"},{"display_name":"peroxisomal disorders","id":"peroxisomal-disorders","score":0.7056,"url":"https://openalex.org/keywords/peroxisomal-disorders"},{"display_name":"organic aciduria","id":"organic-aciduria","score":0.883,"url":"https://openalex.org/keywords/organic-aciduria"},{"display_name":"amino acid metabolism disorders","id":"amino-acid-metabolism-disorders","score":0.788,"url":"https://openalex.org/keywords/amino-acid-metabolism-disorders"},{"display_name":"maple syrup urine disease","id":"maple-syrup-urine-disease","score":0.8165,"url":"https://openalex.org/keywords/maple-syrup-urine-disease"},{"display_name":"phenylalanine hydroxylase","id":"phenylalanine-hydroxylase","score":0.5958,"url":"https://openalex.org/keywords/phenylalanine-hydroxylase"},{"display_name":"fatty acid oxidation disorders","id":"fatty-acid-oxidation-disorders","score":0.7723,"url":"https://openalex.org/keywords/fatty-acid-oxidation-disorders"},{"display_name":"alkaptonuria","id":"alkaptonuria","score":0.6502,"url":"https://openalex.org/keywords/alkaptonuria"},{"display_name":"X-linked adrenoleukodystrophy","id":"x-linked-adrenoleukodystrophy","score":0.6946,"url":"https://openalex.org/keywords/x-linked-adrenoleukodystrophy"},{"display_name":"acylcarnitines","id":"acylcarnitines","score":0.2429,"url":"https://openalex.org/keywords/acylcarnitines"},{"display_name":"ornithine transcarbamylase deficiency","id":"ornithine-transcarbamylase-deficiency","score":0.7687,"url":"https://openalex.org/keywords/ornithine-transcarbamylase-deficiency"},{"display_name":"propionic acidemia","id":"propionic-acidemia","score":0.8449,"url":"https://openalex.org/keywords/propionic-acidemia"},{"display_name":"very long chain fatty acids","id":"very-long-chain-fatty-acids","score":0.3968,"url":"https://openalex.org/keywords/very-long-chain-fatty-acids"},{"display_name":"tetrahydrobiopterin","id":"tetrahydrobiopterin","score":0.2301,"url":"https://openalex.org/keywords/tetrahydrobiopterin"},{"display_name":"medium-chain acyl-CoA dehydrogenase deficiency","id":"medium-chain-acyl-coa-dehydrogenase-deficiency","score":0.92,"url":"https://openalex.org/keywords/medium-chain-acyl-coa-dehydrogenase-deficiency"},{"display_name":"adrenoleukodystrophy","id":"adrenoleukodystrophy","score":0.5574,"url":"https://openalex.org/keywords/adrenoleukodystrophy"},{"display_name":"leukodystrophy","id":"leukodystrophy","score":0.2714,"url":"https://openalex.org/keywords/leukodystrophy"},{"display_name":"Zellweger syndrome","id":"zellweger-syndrome","score":0.7549,"url":"https://openalex.org/keywords/zellweger-syndrome"}],"legacy_keywords":["Metabolic Disorders","Biochemical Genetics","Newborn Screening","Mitochondrial Function","Carnitine","Phenylketonuria","Tandem Mass Spectrometry","Inborn Errors of Metabolism","Tyrosine Hydroxylase","Tetrahydrobiopterin"],"openalex_id":"https://openalex.org/T11027","source_created_date":"2024-01-23T15:27:09","source_updated_date":"2026-10-17T03:02:00","subfield_id":"1308","url":"/topics/T11027","works_api_url":"https://api.openalex.org/works?filter=topics.id:T11027","works_count":99279,"label":"Metabolism and Genetic Disorders","provider":"openalex","revision":"043bbebd78f7fa7f","taxonomy_revision":"f050b5d4780b1289","title":"Metabolism and Genetic Disorders","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"36174533850064523","address_version":"morton4x16-v1","coordinates":[1,13,1308,11027],"answer_status":"Directory metadata; local answer requires separate source review","truth_status":"Subject descriptor, not a factual answer or a demonstrated knowledge gap","reviewed_answer":null}