{"id":"https://openalex.org/W7196993028","doi":"https://doi.org/10.1186/s13023-026-04536-7","title":"Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye","display_name":"Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye","publication_year":2026,"publication_date":"2026-08-06","ids":{"openalex":"https://openalex.org/W7196993028","doi":"https://doi.org/10.1186/s13023-026-04536-7","pmid":"https://pubmed.ncbi.nlm.nih.gov/42983856","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13732954"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-026-04536-7","doi":"https://doi.org/10.1186/s13023-026-04536-7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04536-7","pdf_url":null,"source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1186/s13023-026-04536-7","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003435291","display_name":"Engi\u0307n K\u00f6se","orcid":"https://orcid.org/0000-0001-7238-2894","observed_orcids":["https://orcid.org/0000-0001-7238-2894"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Engin K\u00f6se","raw_affiliation_strings":["Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye. enginkose85@hotmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye. enginkose85@hotmail.com","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018458251","display_name":"Berrak Bilginer G\u00fcrb\u00fcz","orcid":"https://orcid.org/0000-0002-6197-0647","observed_orcids":["https://orcid.org/0000-0002-6197-0647"]},"institutions":[{"id":"https://openalex.org/I4210150808","display_name":"Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University","ror":"https://ror.org/05ryemn72","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210150808"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Berrak Bilginer G\u00fcrb\u00fcz","raw_affiliation_strings":["Department of Pediatric Metabolism, Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210150808"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028773099","display_name":"Halil Tuna Akar","orcid":"https://orcid.org/0000-0003-1982-8046","observed_orcids":["https://orcid.org/0000-0003-1982-8046"]},"institutions":[{"id":"https://openalex.org/I4405254304","display_name":"Ankara Etlik City Hospital","ror":"https://ror.org/01nk6sj42","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I1303077703","https://openalex.org/I4405254304"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Halil Tuna Akar","raw_affiliation_strings":["Department of Pediatric Metabolism, Etlik City Hospital, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Etlik City Hospital, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4405254304"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5127333585","display_name":"TU\u011eBA AKBEY KO\u00c7AK","orcid":"https://orcid.org/0000-0002-0723-9685","observed_orcids":["https://orcid.org/0000-0002-0723-9685"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tu\u011fba Akbey Ko\u00e7ak","raw_affiliation_strings":["Department of Pediatric Metabolism, Mardin Training and Research Hospital, Mardin, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Mardin Training and Research Hospital, Mardin, T\u00fcrkiye","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028015912","display_name":"Merve Aslanta\u015f","orcid":"https://orcid.org/0000-0001-6490-2984","observed_orcids":["https://orcid.org/0000-0001-6490-2984","https://orcid.org/0000-0002-4450-6295"]},"institutions":[{"id":"https://openalex.org/I4210125526","display_name":"\u015eanl\u0131urfa Mehmet Akif \u0130nan E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/02zv5qf81","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210125526"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Merve Aslanta\u015f","raw_affiliation_strings":["Department of Pediatric Metabolism, \u015eanl\u0131urfa Training and Research Hospital, \u015eanl\u0131urfa, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, \u015eanl\u0131urfa Training and Research Hospital, \u015eanl\u0131urfa, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210125526"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104330926","display_name":"Esra Er","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210090359","display_name":"Dr. Beh\u00e7et Uz \u00c7ocuk Hastal\u0131klar\u0131 Hastanesi","ror":"https://ror.org/00aff0y51","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210090359"]},{"id":"https://openalex.org/I4210128276","display_name":"Sa\u011fl\u0131k Bilimleri \u00dcniversitesi","ror":"https://ror.org/03k7bde87","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210128276"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Esra Er","raw_affiliation_strings":["Department of Pediatric Metabolism, Dr. Beh\u00e7et Uz Children's Hospital, University of Health Sciences, \u0130zmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Dr. Beh\u00e7et Uz Children's Hospital, University of Health Sciences, \u0130zmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210090359","https://openalex.org/I4210128276"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045062039","display_name":"Pelin Teke K\u0131sa","orcid":"https://orcid.org/0000-0001-6481-3172","observed_orcids":["https://orcid.org/0000-0001-6481-3172"]},"institutions":[{"id":"https://openalex.org/I193615760","display_name":"Dokuz Eyl\u00fcl University","ror":"https://ror.org/00dbd8b73","country_code":"TR","type":"education","lineage":["https://openalex.org/I193615760"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Pelin Teke K\u0131sa","raw_affiliation_strings":["Department of Pediatric Metabolism, Dokuz Eyl\u00fcl University Faculty of Medicine, \u0130zmir, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Dokuz Eyl\u00fcl University Faculty of Medicine, \u0130zmir, T\u00fcrkiye","institution_ids":["https://openalex.org/I193615760"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025871525","display_name":"\u0130brahim Ta\u015f","orcid":"https://orcid.org/0000-0001-7261-6590","observed_orcids":["https://orcid.org/0000-0001-7261-6590"]},"institutions":[{"id":"https://openalex.org/I4210110321","display_name":"\u00dcmraniye E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/023wdy559","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210110321"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u0130brahim Ta\u015f","raw_affiliation_strings":["Department of Pediatric Metabolism, \u00dcmraniye Training and Research Hospital, \u0130stanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, \u00dcmraniye Training and Research Hospital, \u0130stanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210110321"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103312686","display_name":"Nazmiye T\u00fczel G\u00fcnd\u00fcz","orcid":"https://orcid.org/0009-0002-4836-974X","observed_orcids":["https://orcid.org/0009-0002-4836-974X"]},"institutions":[{"id":"https://openalex.org/I55931168","display_name":"Cukurova University","ror":"https://ror.org/05wxkj555","country_code":"TR","type":"education","lineage":["https://openalex.org/I55931168"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Nazmiye T\u00fczel G\u00fcnd\u00fcz","raw_affiliation_strings":["Department of Pediatric Metabolism, \u00c7ukurova University Faculty of Medicine, Adana, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, \u00c7ukurova University Faculty of Medicine, Adana, T\u00fcrkiye","institution_ids":["https://openalex.org/I55931168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079250878","display_name":"Merve Yolda\u015f \u00c7elik","orcid":"https://orcid.org/0000-0003-0015-9807","observed_orcids":["https://orcid.org/0000-0003-0015-9807"]},"institutions":[{"id":"https://openalex.org/I4210094594","display_name":"Adana Hospital","ror":"https://ror.org/0086skx40","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210094594","https://openalex.org/I4210127769"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Merve Yolda\u015f \u00c7elik","raw_affiliation_strings":["Department of Pediatric Metabolism, Adana City Hospital, Adana, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Adana City Hospital, Adana, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210094594"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012190043","display_name":"\u015eahin Erd\u00f6l","orcid":"https://orcid.org/0000-0003-4402-9609","observed_orcids":["https://orcid.org/0000-0003-4402-9609"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u015eahin Erd\u00f6l","raw_affiliation_strings":["Department of Pediatric Metabolism, Uluda\u011f University Faculty of Medicine, Bursa, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Uluda\u011f University Faculty of Medicine, Bursa, T\u00fcrkiye","institution_ids":["https://openalex.org/I131835042"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5003435291"],"corresponding_institution_ids":["https://openalex.org/I149218525"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.56714579,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"21","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":1.0,"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":1.0,"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/T12068","display_name":"Neonatal Health and Biochemistry","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/phenylketonuria","display_name":"phenylketonuria","score":1.0},{"id":"https://openalex.org/keywords/guideline-implementation","display_name":"guideline implementation","score":0.5320000052452087},{"id":"https://openalex.org/keywords/metabolic-monitoring","display_name":"metabolic monitoring","score":0.609000027179718},{"id":"https://openalex.org/keywords/dietary-management","display_name":"dietary management","score":0.8209999799728394},{"id":"https://openalex.org/keywords/protein-substitutes","display_name":"protein substitutes","score":0.9539999961853027},{"id":"https://openalex.org/keywords/barriers-to-care","display_name":"barriers to care","score":0.8379999995231628},{"id":"https://openalex.org/keywords/physician-practice","display_name":"physician practice","score":0.5789999961853027},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.4830000102519989}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7064999938011169},{"id":"https://openalex.org/C2780182762","wikidata":"https://www.wikidata.org/wiki/Q1630279","display_name":"Guideline","level":2,"score":0.607200026512146},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.46619999408721924},{"id":"https://openalex.org/C2991848491","wikidata":"https://www.wikidata.org/wiki/Q2351083","display_name":"Metabolic disease","level":2,"score":0.3970000147819519},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.387800008058548},{"id":"https://openalex.org/C2776263783","wikidata":"https://www.wikidata.org/wiki/Q5275067","display_name":"Dietary management","level":2,"score":0.3714999854564667},{"id":"https://openalex.org/C2426938","wikidata":"https://www.wikidata.org/wiki/Q3355478","display_name":"Medical prescription","level":2,"score":0.3707999885082245},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.37040001153945923},{"id":"https://openalex.org/C2779974597","wikidata":"https://www.wikidata.org/wiki/Q28448986","display_name":"Clinical Practice","level":2,"score":0.36579999327659607},{"id":"https://openalex.org/C39896193","wikidata":"https://www.wikidata.org/wiki/Q380344","display_name":"Descriptive statistics","level":2,"score":0.35339999198913574},{"id":"https://openalex.org/C2982889124","wikidata":"https://www.wikidata.org/wiki/Q107439039","display_name":"Disease management","level":4,"score":0.33219999074935913},{"id":"https://openalex.org/C142052008","wikidata":"https://www.wikidata.org/wiki/Q954027","display_name":"Cross-sectional study","level":2,"score":0.32089999318122864},{"id":"https://openalex.org/C2780578515","wikidata":"https://www.wikidata.org/wiki/Q657193","display_name":"Metabolic syndrome","level":3,"score":0.3174000084400177},{"id":"https://openalex.org/C2908963387","wikidata":"https://www.wikidata.org/wiki/Q194041","display_name":"Phenylketonurias","level":4,"score":0.3147999942302704},{"id":"https://openalex.org/C184356942","wikidata":"https://www.wikidata.org/wiki/Q830382","display_name":"Best practice","level":2,"score":0.29980000853538513},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2971000075340271},{"id":"https://openalex.org/C2988731192","wikidata":"https://www.wikidata.org/wiki/Q7410159","display_name":"Blood sampling","level":2,"score":0.2759999930858612},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.2578999996185303}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010661","descriptor_name":"Phenylketonurias","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":true},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1186/s13023-026-04536-7","doi":"https://doi.org/10.1186/s13023-026-04536-7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04536-7","pdf_url":null,"source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13732954","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13732954/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13732954/pdf/13023_2026_Article_4536.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet J Rare Dis","raw_type":"Text"},{"id":"pmid:42983856","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42983856","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":"Orphanet journal of rare diseases","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1186/s13023-026-04536-7","doi":"https://doi.org/10.1186/s13023-026-04536-7","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04536-7","pdf_url":null,"source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320310065","display_name":"Danone","ror":"https://ror.org/00aj77a24"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7196993028.pdf","grobid_xml":"https://content.openalex.org/works/W7196993028.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W2009059536","https://openalex.org/W2044252754","https://openalex.org/W2093350983","https://openalex.org/W2110312890","https://openalex.org/W2126537899","https://openalex.org/W2153962680","https://openalex.org/W2761810763","https://openalex.org/W3040599267","https://openalex.org/W4249791806","https://openalex.org/W4392239793","https://openalex.org/W4405008241","https://openalex.org/W4410015754","https://openalex.org/W4415679807"],"related_works":["https://openalex.org/W4390128863","https://openalex.org/W6920883128","https://openalex.org/W4388888519","https://openalex.org/W2009059536","https://openalex.org/W7009039696","https://openalex.org/W3186058001","https://openalex.org/W1768920169","https://openalex.org/W2013134165","https://openalex.org/W2051710793","https://openalex.org/W2094632091"],"abstract_inverted_index":{"BACKGROUND:":[0],"Phenylketonuria":[1],"(PKU)":[2],"is":[3,241],"a":[4,78,244],"rare":[5,287],"inherited":[6],"metabolic":[7,18,70,132],"disorder":[8],"requiring":[9],"lifelong":[10],"dietary":[11,92,226],"management":[12,47,227,238],"and":[13,37,54,94,103,117,121,163,168,215,232,250,257,274],"regular":[14],"monitoring":[15,90,105,144,191,206,272],"to":[16,43,55,59,96,204,271,278],"maintain":[17],"control.":[19],"Although":[20],"international":[21,86],"guidelines":[22],"provide":[23],"clear":[24,245],"recommendations,":[25],"their":[26],"implementation":[27,282],"in":[28,52,145,152,161,179,196,225,239,286],"real-world":[29,281],"clinical":[30],"practice":[31,153],"may":[32],"be":[33],"limited":[34],"by":[35,243,255],"structural":[36,256],"patient-related":[38],"factors.":[39],"This":[40],"study":[41],"aimed":[42],"evaluate":[44],"clinician-reported":[45,104,251],"PKU":[46,87,237],"practices":[48,123],"across":[49,75,107],"multiple":[50,73],"centers":[51,74,136],"Turkiye":[53,76,240],"identify":[56],"key":[57],"barriers":[58,95,203],"guideline":[60,248],"implementation.":[61,97],"METHODS:":[62],"A":[63],"descriptive":[64,115],"cross-sectional":[65],"survey":[66],"was":[67,177,192,222],"conducted":[68],"among":[69],"specialists":[71,133],"from":[72,134],"during":[77],"scientific":[79],"meeting.":[80],"The":[81,200],"questionnaire,":[82],"developed":[83],"based":[84],"on":[85],"guidelines,":[88],"assessed":[89],"practices,":[91,228,252],"management,":[93],"Participants":[98],"reported":[99,122,149],"both":[100],"theoretically":[101],"recommended":[102,120,142],"frequencies":[106],"different":[108],"age":[109],"groups.":[110],"Data":[111],"were":[112,124,159],"analyzed":[113],"using":[114,126],"statistics,":[116],"differences":[118],"between":[119,247],"evaluated":[125],"the":[127,263,280],"Stuart-Maxwell":[128],"test.":[129],"RESULTS:":[130],"Sixteen":[131],"16":[135],"participated.":[137],"While":[138],"69%":[139,197],"of":[140,198,209,265,283],"clinicians":[141],"weekly":[143],"infants,":[146],"only":[147],"25%":[148],"achieving":[150],"this":[151],"(p":[154,165,184],"=":[155,166,170,185],"0.018).":[156],"Similar":[157],"discrepancies":[158],"observed":[160,224],"adolescents":[162],"adults":[164],"0.009":[167],"p":[169],"0.043,":[171],"respectively),":[172],"whereas":[173],"no":[174],"significant":[175],"difference":[176],"found":[178],"children":[180],"aged":[181],"1-12":[182],"years":[183],"0.122).":[186],"Home-based":[187],"dried":[188],"blood":[189],"spot":[190],"not":[193],"routinely":[194],"used":[195],"centers.":[199],"most":[201],"important":[202],"optimal":[205],"included":[207],"lack":[208],"home":[210],"sampling":[211],"systems,":[212],"geographical":[213],"distance,":[214],"work":[216],"or":[217],"school-related":[218],"constraints.":[219],"Substantial":[220],"variability":[221],"also":[223],"including":[229],"protein":[230,233],"prescription":[231],"substitute":[234],"use.":[235],"CONCLUSIONS:":[236],"characterized":[242],"gap":[246],"recommendations":[249],"primarily":[253],"driven":[254],"implementation-related":[258],"barriers.":[259],"These":[260],"findings":[261],"highlight":[262],"importance":[264],"strengthening":[266],"healthcare":[267],"infrastructure,":[268],"improving":[269],"access":[270],"tools,":[273],"integrating":[275],"patient-centered":[276],"strategies":[277],"enhance":[279],"evidence-based":[284],"care":[285],"diseases.":[288]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-08-07T00:00:00"}