{"id":"https://openalex.org/W2003194423","doi":"https://doi.org/10.1056/nejme058227","title":"Metabolic Disorders in the Center of Genetic Medicine","display_name":"Metabolic Disorders in the Center of Genetic Medicine","publication_year":2005,"publication_date":"2005-11-02","ids":{"openalex":"https://openalex.org/W2003194423","doi":"https://doi.org/10.1056/nejme058227","mag":"2003194423","pmid":"https://pubmed.ncbi.nlm.nih.gov/16267330"},"language":"en","primary_location":{"id":"doi:10.1056/nejme058227","doi":"https://doi.org/10.1056/nejme058227","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejme058227","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},"volume":null,"type":"editorial","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112778417","display_name":"Harvey L. Levy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Harvey L. Levy","raw_affiliation_strings":["Department of Medicine, Division of Genetics, Children's Hospital Boston, and Harvard Medical School \u2014 both in Boston"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Genetics, Children's Hospital Boston, and Harvard Medical School \u2014 both in Boston","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5112778417"],"corresponding_institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"353","issue":"18","first_page":"1968","last_page":"1970"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.003700000001117587,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/metabolic-disorders","display_name":"metabolic disorders","score":0.9309999942779541},{"id":"https://openalex.org/keywords/genetic-medicine","display_name":"genetic medicine","score":0.8849999904632568},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.8500000238418579},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.6740000247955322},{"id":"https://openalex.org/keywords/human-genome-sequencing","display_name":"human genome sequencing","score":0.6809999942779541},{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.33500000834465027}],"concepts":[{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.6998417377471924},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.622672438621521},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.6105119585990906},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5327750444412231},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.41000860929489136},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35793042182922363},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14173567295074463},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.11872631311416626},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005973","descriptor_name":"Glutamine","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D005973","descriptor_name":"Glutamine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006712","descriptor_name":"Homocystinuria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010661","descriptor_name":"Phenylketonurias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018698","descriptor_name":"Glutamic Acid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020138","descriptor_name":"Hyperhomocysteinemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D020138","descriptor_name":"Hyperhomocysteinemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020739","descriptor_name":"Brain Diseases, Metabolic, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1056/nejme058227","doi":"https://doi.org/10.1056/nejme058227","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejme058227","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:16267330","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16267330","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The New England journal of medicine","raw_type":"Comment"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.6240000128746033,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.5400000214576721,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W90081202","https://openalex.org/W1555689849","https://openalex.org/W1978195308","https://openalex.org/W1979371794","https://openalex.org/W1996015592","https://openalex.org/W2014017198","https://openalex.org/W2022963580","https://openalex.org/W2056767200","https://openalex.org/W2079606432","https://openalex.org/W2093228053","https://openalex.org/W2094025655","https://openalex.org/W2167231581","https://openalex.org/W2314181427","https://openalex.org/W2415544950","https://openalex.org/W3119652278"],"related_works":["https://openalex.org/W2398878166","https://openalex.org/W2051794353","https://openalex.org/W2044873008","https://openalex.org/W2406127674","https://openalex.org/W2466230460","https://openalex.org/W129654528","https://openalex.org/W2018299623","https://openalex.org/W2397093740","https://openalex.org/W2013496355","https://openalex.org/W1531376162"],"abstract_inverted_index":{"Genetics":[0],"is":[1,15,60],"the":[2,39,44,63,66,70,85],"new":[3],"frontier":[4],"of":[5,10,36,46,65,82],"medicine.":[6],"Hardly":[7],"an":[8],"issue":[9],"any":[11],"leading":[12],"medical":[13,49],"journal":[14],"published":[16],"without":[17],"one":[18],"or":[19,26],"more":[20],"articles":[21,37],"on":[22],"a":[23,27,56],"genetic":[24,92],"disease":[25],"topic":[28],"closely":[29],"related":[30],"to":[31,43,77],"genetics.":[32],"A":[33],"recent":[34],"series":[35,57],"in":[38,48],"Journal":[40],"was":[41],"devoted":[42],"importance":[45],"genetics":[47],"practice.1":[50],"The":[51],"immediate":[52],"impetus":[53],"for":[54],"such":[55],"was,":[58],"as":[59,97],"widely":[61],"known,":[62],"sequencing":[64],"human":[67],"genome":[68],"and":[69,80],"promise":[71],"that":[72,73,87],"effort":[74],"would":[75],"lead":[76],"better":[78],"diagnosis":[79],"treatment":[81],"disease.2":[83],"However,":[84],"knowledge":[86],"many":[88],"metabolic":[89],"disorders":[90],"are":[91],"has":[93],"long":[94],"been":[95],"seen":[96],"evidence,":[98],"with":[99],".":[100,101,102]},"counts_by_year":[{"year":2016,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}