{"id":"https://openalex.org/W7225102134","doi":"https://doi.org/10.1186/s13023-026-04691-x","title":"Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-up","display_name":"Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-up","publication_year":2026,"publication_date":"2026-11-02","ids":{"openalex":"https://openalex.org/W7225102134","doi":"https://doi.org/10.1186/s13023-026-04691-x"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-026-04691-x","doi":"https://doi.org/10.1186/s13023-026-04691-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04691-x","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":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1186/s13023-026-04691-x","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070323921","display_name":"Meryem Karaca","orcid":"https://orcid.org/0000-0002-0662-7344","observed_orcids":["https://orcid.org/0000-0002-0662-7344"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Meryem Karaca","raw_affiliation_strings":["Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, T\u00fcrkiye","Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-0662-7344","affiliations":[{"raw_affiliation_string":"Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]},{"raw_affiliation_string":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027577665","display_name":"Mehmet Cihan Balc\u0131","orcid":"https://orcid.org/0000-0002-3384-8679","observed_orcids":["https://orcid.org/0000-0002-3384-8679","https://orcid.org/0000-0003-2167-8139"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mehmet Cihan Balc\u0131","raw_affiliation_strings":["Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108126043","display_name":"Dilek G\u00fcne\u015f","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Dilek G\u00fcne\u015f","raw_affiliation_strings":["Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070418902","display_name":"Nafiye Emel \u00c7akar","orcid":"https://orcid.org/0000-0003-2036-4082","observed_orcids":["https://orcid.org/0000-0003-2036-4082"]},"institutions":[{"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":"Nafiye Emel \u00c7akar","raw_affiliation_strings":["Department of Pediatric Metabolism, Prof Dr Cemil Ta\u015fc\u0131o\u011flu City Hospital, University of Health Sciences, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Prof Dr Cemil Ta\u015fc\u0131o\u011flu City Hospital, University of Health Sciences, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210128276"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112692476","display_name":"Seda Gunes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I80538482","display_name":"Harran University","ror":"https://ror.org/057qfs197","country_code":"TR","type":"education","lineage":["https://openalex.org/I80538482"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Seda G\u00fcne\u015f","raw_affiliation_strings":["Department of Pediatric Metabolism, Harran University, \u015eanl\u0131urfa, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Metabolism, Harran University, \u015eanl\u0131urfa, T\u00fcrkiye","institution_ids":["https://openalex.org/I80538482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028804856","display_name":"Arzu Selamio\u011flu","orcid":"https://orcid.org/0000-0001-7264-038X","observed_orcids":["https://orcid.org/0000-0001-7264-038X"]},"institutions":[{"id":"https://openalex.org/I4210112601","display_name":"Ba\u011fc\u0131lar E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/0238k6k75","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210112601"]},{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Arzu Selamio\u011flu","raw_affiliation_strings":["Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, T\u00fcrkiye","Division of Pediatric Metabolic Diseases, Ba\u011fc\u0131lar Training and Research Hospital, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]},{"raw_affiliation_string":"Division of Pediatric Metabolic Diseases, Ba\u011fc\u0131lar Training and Research Hospital, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210112601"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062073573","display_name":"Huseyin Kutay Korbeyli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210164529","display_name":"\u0130stanbul Kanuni Sultan S\u00fcleyman E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/05jxvg504","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210164529"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"H\u00fcseyin Kutay K\u00f6rbeyli","raw_affiliation_strings":["Division of Pediatric Metabolism, Kanuni Sultan S\u00fcleyman Training and Research Hospital, \u0130stanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Metabolism, Kanuni Sultan S\u00fcleyman Training and Research Hospital, \u0130stanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210164529"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034992375","display_name":"Asl\u0131 Durmu\u015f","orcid":"https://orcid.org/0000-0002-9671-6665","observed_orcids":["https://orcid.org/0000-0002-9671-6665"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Asl\u0131 Durmu\u015f","raw_affiliation_strings":["Division of Pediatric Metabolism, Kanuni Training and Research Hospital, Trabzon, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Metabolism, Kanuni Training and Research Hospital, Trabzon, T\u00fcrkiye","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160336135","display_name":"Belk\u0131s Ak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149416","display_name":"Malatya Devlet Hastanesi","ror":"https://ror.org/047xgg150","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210149416"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Belk\u0131s Ak","raw_affiliation_strings":["Division of Pediatric Metabolism, Malatya Training and Research Hospital, Malatya, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Metabolism, Malatya Training and Research Hospital, Malatya, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210149416"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061671116","display_name":"\u015eebnem K\u0131l\u0131\u00e7","orcid":"https://orcid.org/0000-0002-8665-2733","observed_orcids":["https://orcid.org/0000-0002-8665-2733"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u015eebnem K\u0131l\u0131\u00e7","raw_affiliation_strings":["Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103312670","display_name":"\u0130rem Durda\u011f \u00d6zt\u00fcrk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u0130rem Durda\u011f \u00d6zt\u00fcrk","raw_affiliation_strings":["Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036862790","display_name":"Meltem Bor","orcid":"https://orcid.org/0000-0002-4171-2149","observed_orcids":["https://orcid.org/0000-0002-4171-2149"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Meltem Bor","raw_affiliation_strings":["Division of Neonatology, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neonatology, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5158311119","display_name":"Tu\u011fba Sara\u00e7 Sivrikoz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210112471","display_name":"Istanbul University-Cerrahpa\u015fa","ror":"https://ror.org/01dzn5f42","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210112471"]},{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Tu\u011fba Sara\u00e7 Sivrikoz","raw_affiliation_strings":["Perinatology, Istanbul University Istanbul Medical Faculty, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Perinatology, Istanbul University Istanbul Medical Faculty, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210112471","https://openalex.org/I67581229"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008664411","display_name":"G\u00fclden G\u00f6k\u00e7ay","orcid":"https://orcid.org/0000-0003-3726-5726","observed_orcids":["https://orcid.org/0000-0003-3726-5726"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"G\u00fclden G\u00f6k\u00e7ay","raw_affiliation_strings":["Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I67581229"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5070323921"],"corresponding_institution_ids":["https://openalex.org/I67581229"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.84509242,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"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":0.9984999895095825,"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":0.9984999895095825,"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":9.999999747378752e-05,"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/T12230","display_name":"Cardiovascular Issues in Pregnancy","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.8820000290870667},{"id":"https://openalex.org/keywords/pregnancy","display_name":"pregnancy","score":0.7250000238418579},{"id":"https://openalex.org/keywords/maternal-outcomes","display_name":"maternal outcomes","score":0.7059999704360962},{"id":"https://openalex.org/keywords/offspring-outcomes","display_name":"offspring outcomes","score":0.9070000052452087},{"id":"https://openalex.org/keywords/treatment-adherence","display_name":"medication adherence","score":0.6359999775886536},{"id":"https://openalex.org/keywords/organic-aciduria","display_name":"organic aciduria","score":0.996999979019165},{"id":"https://openalex.org/keywords/amino-acid-metabolism-disorders","display_name":"amino acid metabolism disorders","score":0.9990000128746033},{"id":"https://openalex.org/keywords/urea-cycle-disorders","display_name":"urea cycle disorders","score":0.9319999814033508},{"id":"https://openalex.org/keywords/glycogen-storage-disease","display_name":"glycogen storage disease","score":0.9980000257492065},{"id":"https://openalex.org/keywords/hyperemesis-gravidarum","display_name":"hyperemesis gravidarum","score":0.8650000095367432},{"id":"https://openalex.org/keywords/metabolic-decompensation","display_name":"metabolic decompensation","score":0.7369999885559082},{"id":"https://openalex.org/keywords/neonatal-intensive-care","display_name":"neonatal intensive care","score":0.7770000100135803},{"id":"https://openalex.org/keywords/neurodevelopmental-outcomes","display_name":"neurodevelopmental outcomes","score":0.8009999990463257},{"id":"https://openalex.org/keywords/maternal-depression","display_name":"maternal depression","score":0.7599999904632568},{"id":"https://openalex.org/keywords/maternal-anxiety","display_name":"maternal anxiety","score":0.9309999942779541},{"id":"https://openalex.org/keywords/breastfeeding","display_name":"breastfeeding","score":0.49799999594688416},{"id":"https://openalex.org/keywords/preconception-care","display_name":"preconception care","score":0.906000018119812}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8306000232696533},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.7360000014305115},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.5493000149726868},{"id":"https://openalex.org/C558461103","wikidata":"https://www.wikidata.org/wiki/Q154430","display_name":"Anxiety","level":2,"score":0.5012000203132629},{"id":"https://openalex.org/C77061444","wikidata":"https://www.wikidata.org/wiki/Q595994","display_name":"Urea cycle","level":4,"score":0.43939998745918274},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.4203000068664551},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.41029998660087585},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.40230000019073486},{"id":"https://openalex.org/C2776283161","wikidata":"https://www.wikidata.org/wiki/Q174876","display_name":"Breastfeeding","level":2,"score":0.3686000108718872},{"id":"https://openalex.org/C188816634","wikidata":"https://www.wikidata.org/wiki/Q2113324","display_name":"Prospective cohort study","level":2,"score":0.36169999837875366},{"id":"https://openalex.org/C46973012","wikidata":"https://www.wikidata.org/wiki/Q28627","display_name":"Gestation","level":3,"score":0.358599990606308},{"id":"https://openalex.org/C2778376644","wikidata":"https://www.wikidata.org/wiki/Q2253111","display_name":"Gestational age","level":3,"score":0.35359999537467957},{"id":"https://openalex.org/C2776653193","wikidata":"https://www.wikidata.org/wiki/Q4878596","display_name":"Beck Anxiety Inventory","level":4,"score":0.3424000144004822},{"id":"https://openalex.org/C2779434492","wikidata":"https://www.wikidata.org/wiki/Q126691","display_name":"Gestational diabetes","level":4,"score":0.34220001101493835},{"id":"https://openalex.org/C112672928","wikidata":"https://www.wikidata.org/wiki/Q239526","display_name":"Offspring","level":3,"score":0.34150001406669617},{"id":"https://openalex.org/C66322754","wikidata":"https://www.wikidata.org/wiki/Q4128476","display_name":"Birth weight","level":3,"score":0.32190001010894775},{"id":"https://openalex.org/C2779631380","wikidata":"https://www.wikidata.org/wiki/Q813655","display_name":"Beck Depression Inventory","level":3,"score":0.31630000472068787},{"id":"https://openalex.org/C2776867660","wikidata":"https://www.wikidata.org/wiki/Q1814941","display_name":"Depression (economics)","level":2,"score":0.3125999867916107},{"id":"https://openalex.org/C70818257","wikidata":"https://www.wikidata.org/wiki/Q502671","display_name":"Metabolic control analysis","level":3,"score":0.296099990606308},{"id":"https://openalex.org/C2776210078","wikidata":"https://www.wikidata.org/wiki/Q351870","display_name":"Reproductive medicine","level":3,"score":0.2953999936580658},{"id":"https://openalex.org/C2780578515","wikidata":"https://www.wikidata.org/wiki/Q657193","display_name":"Metabolic syndrome","level":3,"score":0.287200003862381},{"id":"https://openalex.org/C2778409550","wikidata":"https://www.wikidata.org/wiki/Q391556","display_name":"Hyperemesis gravidarum","level":3,"score":0.28290000557899475},{"id":"https://openalex.org/C23131810","wikidata":"https://www.wikidata.org/wiki/Q818574","display_name":"Observational study","level":2,"score":0.27230000495910645},{"id":"https://openalex.org/C2780938740","wikidata":"https://www.wikidata.org/wiki/Q1298973","display_name":"Small for gestational age","level":4,"score":0.26750001311302185},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.26649999618530273},{"id":"https://openalex.org/C2776352029","wikidata":"https://www.wikidata.org/wiki/Q4686351","display_name":"Advanced maternal age","level":4,"score":0.2606000006198883}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1186/s13023-026-04691-x","doi":"https://doi.org/10.1186/s13023-026-04691-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04691-x","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":"public-domain","license_id":"https://openalex.org/licenses/public-domain","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/s13023-026-04691-x","doi":"https://doi.org/10.1186/s13023-026-04691-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-026-04691-x","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":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7171443882","https://openalex.org/W2808032514","https://openalex.org/W2027290497","https://openalex.org/W4322768653","https://openalex.org/W2038652901","https://openalex.org/W4308726020","https://openalex.org/W4406116281","https://openalex.org/W2888330494","https://openalex.org/W3204743029","https://openalex.org/W2004302435"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"As":[2],"the":[3,24,33,79,217],"number":[4],"of":[5,27,36,96,180,188],"individuals":[6],"with":[7,48,94,227],"inherited":[8],"metabolic":[9,25,57,137,140],"disorders":[10,95],"(IMDs)":[11],"reaching":[12],"reproductive":[13],"age":[14,122],"increases,":[15],"pregnancy":[16,30,215],"poses":[17],"unique":[18],"clinical":[19,175],"challenges.":[20],"This":[21,40],"study":[22,44],"evaluates":[23],"control":[26,58],"mothers,":[28],"their":[29,37,51],"outcomes,":[31],"and":[32,50,59,83,106,126,168,194,200,211,216,232,240,247],"long-term":[34,157,242],"outcomes":[35,66,224,243],"offspring.":[38,248],"Methods":[39],"retrospective,":[41],"single-centre,":[42],"observational":[43],"included":[45,112],"ten":[46],"women":[47,93,226],"IMDs":[49],"nineteen":[52],"pregnancies.":[53],"Maternal":[54,73],"characteristics,":[55],"peripartum":[56,147,218],"treatment":[60],"adherence":[61],"were":[62,67],"assessed.":[63],"Long-term":[64],"paediatric":[65],"evaluated":[68,77],"in":[69,92,114,123,129,143,197,203,225],"16":[70],"live-born":[71],"children.":[72],"psychological":[74],"status":[75],"was":[76,182],"using":[78],"Beck":[80,84],"Depression":[81],"Inventory":[82],"Anxiety":[85],"Inventory.":[86],"Results":[87],"The":[88,177],"cohort":[89],"comprised":[90],"pregnancies":[91,116,144],"ketone":[97],"metabolism,":[98],"organic":[99],"acidemias,":[100],"amino":[101],"acidopathies,":[102],"urea":[103],"cycle":[104],"disorder":[105],"glycogen":[107],"storage":[108],"disease.":[109],"Obstetric":[110],"complications":[111],"prematurity":[113],"4":[115,124],"(26.7%),":[117],"being":[118],"small":[119],"for":[120,244],"gestational":[121],"(25%),":[125],"hyperemesis":[127],"gravidarum":[128],"7":[130,189],"(36.8%).":[131],"Two":[132],"patients":[133],"(10.5%)":[134],"experienced":[135],"acute":[136],"decompensation.":[138],"No":[139],"crises":[141],"occurred":[142],"that":[145,160],"received":[146],"intravenous":[148],"dextrose.":[149],"Although":[150],"10":[151],"neonate":[152],"(52.6%)":[153],"required":[154],"intensive":[155],"care,":[156],"follow-up":[158],"revealed":[159,191],"nearly":[161],"all":[162],"children":[163],"had":[164],"achieved":[165],"normal":[166],"growth":[167],"showed":[169],"no":[170],"gross":[171],"neurodevelopmental":[172],"abnormality":[173],"on":[174],"evaluation.":[176],"median":[178],"duration":[179],"breastfeeding":[181],"14.5":[183],"(0\u201348)":[184],"months.":[185],"Psychological":[186],"screening":[187],"mothers":[190,246],"moderate":[192],"depression":[193],"severe":[195],"anxiety":[196],"1":[198],"mother,":[199],"mild":[201],"symptoms":[202],"three":[204],"others.":[205],"Conclusion":[206],"Early":[207],"diagnosis,":[208],"preconception":[209],"management,":[210],"close":[212],"monitoring":[213],"throughout":[214],"period":[219],"may":[220],"contribute":[221],"to":[222,236],"optimize":[223],"IMDs.":[228],"Prospective":[229],"multicenter":[230],"studies":[231],"registries":[233],"are":[234],"essential":[235],"establish":[237],"standardized":[238],"protocols":[239],"evaluate":[241],"both":[245]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-11-03T00:00:00"}
