{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T18:29:03Z","timestamp":1755800943590,"version":"3.44.0"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"5","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0511_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>This study aimed to identify clinical, laboratory, and radiological features that could serve as red flags for diagnosing inherited metabolic disorders (IMDs) with hepatic involvement in childhood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0511_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We retrospectively reviewed the medical records of 1,237 children from a pediatric metabolism department, with suspected or diagnosed IMDs. Patients with hepatic involvement were divided into two groups: Group 1 (diagnosed with IMDs) and Group 2 (undiagnosed). Demographic, clinical, laboratory, and radiological data were compared between the groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0511_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Hepatic involvement was observed in 415 patients (33.5\u202f%), with 206 (49.2\u202f%) diagnosed with IMDs. Group 1 had higher rates of consanguineous marriage and affected siblings. Complex molecule disorders (20.4\u202f%), mitochondrial (16.0\u202f%), and lipid metabolism disorders (16.0\u202f%) were the most common IMDs. Dysmorphic findings were more frequent in Group 1 (28.2 vs. 16.3\u202f%, p=0.004), while diarrhea was less common (4.4 vs. 12.0\u202f%, p=0.005). Ammonia and lactate levels were higher in Group 1 (p&lt;0.001 and p=0.032, respectively). Hepatomegaly was more frequent in Group 1 (53.3 vs. 22.6\u202f%, p&lt;0.001). Pathological abdominal ultrasonography was the only significant multivariate predictor (OR: 89.377, p=0.026). Overall survival was 87.7\u202f%, with no difference between groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0511_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Consanguineous marriage, affected siblings, dysmorphic findings, absence of diarrhea, and pathological abdominal USG are key predictors of IMDs in hepatic involvement cases.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0511","type":"journal-article","created":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T02:47:03Z","timestamp":1740451623000},"page":"465-475","source":"Crossref","is-referenced-by-count":0,"title":["Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8142-3483","authenticated-orcid":false,"given":"Samira","family":"Bayramova","sequence":"first","affiliation":[{"name":"Ankara University Faculty of Medicine, Department of Pediatrics , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0637-417X","authenticated-orcid":false,"given":"Merve","family":"Ko\u00e7 Yeked\u00fcz","sequence":"additional","affiliation":[{"name":"Ankara University Faculty of Medicine, Department of Pediatric Metabolism , Ankara , T\u00fcrkiye"},{"name":"Harvard Medical School , Boston Children\u2019s Hospital , Department of Anesthesiology , Critical Care and Pain Medicine , Boston , MA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7238-2894","authenticated-orcid":false,"given":"Engin","family":"K\u00f6se","sequence":"additional","affiliation":[{"name":"Ankara University Faculty of Medicine, Department of Pediatric Metabolism , Ankara , T\u00fcrkiye"},{"name":"Ankara University Rare Disease Application and Research Center , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5880-1113","authenticated-orcid":false,"given":"Fatma Tuba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Ankara University Faculty of Medicine, Department of Pediatric Metabolism , Ankara , T\u00fcrkiye"},{"name":"Ankara University Rare Disease Application and Research Center , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,2,25]]},"reference":[{"key":"2025082013043683390_j_jpem-2024-0511_ref_001","doi-asserted-by":"crossref","unstructured":"Ezgu, F. 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