{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,20]],"date-time":"2024-01-20T05:40:09Z","timestamp":1705729209851},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0308_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Classic galactosemia is a galactose metabolism disorder due to galactose-1-phosphate uridyltransferase deficiency. In this study we report the clinical features of a cohort of children with classic galactosemia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0308_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective evaluation was made of the files of 42 cases followed up for a diagnosis of classic galactosemia between January 2000 and December 2021. The data were collected of clinical, laboratory and genetic characteristics.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0308_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The cases comprised of 25 (59.5%) girls and 17 (40.5%) boys with a median age of 15\u00a0days (range, 1\u00a0day to 9\u00a0years) at diagnosis. In addition, thirty-six cases (92.3%) could be diagnosed before they were 4\u00a0months old by hospitalization with various clinical findings, primarily liver dysfunction. The most common complaints on presentation were jaundice (78.4%) and vomiting (27%) and the most frequently seen genetic pathogenic variant was c.563A&gt;G (p.Gln188Arg) (92.4%).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0308_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>It can be emphasized that there is a need for a neonatal screening program for classic galactosemia to be able to increase the possibility of early diagnosis and to\u00a0be able to start treatment before the development of a severe clinical picture.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0308","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T14:23:26Z","timestamp":1668781406000},"page":"29-35","source":"Crossref","is-referenced-by-count":1,"title":["All aspects of galactosemia: a single center experience"],"prefix":"10.1515","volume":"36","author":[{"given":"Abdurrahman","family":"Akgun","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism , Firat University School of Medicine , Elazig , Turkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasar","family":"Dogan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology , Firat University School of Medicine , Elazig , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,11,21]]},"reference":[{"key":"2023033122552051519_j_jpem-2022-0308_ref_001","doi-asserted-by":"crossref","unstructured":"Berry, GT, Walter, J, Fridovich-Keil, JL. Disorders of galactose metabolism. In: Saudubray, JM, Baumgartner, MR, Walter, J, editors. Inborn metabolic diseases. Springer; 2016:139\u201347 pp.","DOI":"10.1007\/978-3-662-49771-5_6"},{"key":"2023033122552051519_j_jpem-2022-0308_ref_002","doi-asserted-by":"crossref","unstructured":"Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, HH, Janssen, MCH, et al.. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. Brain Commun 2020;2:fcaa006. https:\/\/doi.org\/10.1093\/braincomms\/fcaa006.","DOI":"10.1093\/braincomms\/fcaa006"},{"key":"2023033122552051519_j_jpem-2022-0308_ref_003","doi-asserted-by":"crossref","unstructured":"Atik, SU, Gursoy, S, Kockar, T, Onal, H, Adal, SE. Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. 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Pharm Pat Anal 2020;9:45\u201351. https:\/\/doi.org\/10.4155\/ppa-2020-0004.","DOI":"10.4155\/ppa-2020-0004"},{"key":"2023033122552051519_j_jpem-2022-0308_ref_007","doi-asserted-by":"crossref","unstructured":"Mackinnon, SR, Krojer, T, Foster, WR, Diaz-Saez, L, Tang, M, Huber, KVM, et al.. Fragment screening reveals starting points for rational design of galactokinase 1 inhibitors to treat classic galactosemia. ACS Chem Biol 2021;16:586\u201395. https:\/\/doi.org\/10.1021\/acschembio.0c00498.","DOI":"10.1021\/acschembio.0c00498"},{"key":"2023033122552051519_j_jpem-2022-0308_ref_008","unstructured":"Demirkol, M, Baykal, T, H\u00fcner, G, \u015earbat, G, \u0130nce, Z, Kurdo\u011flu, G. Newborn screening for biotidinase deficiency: a pilot study from \u0130stanbul. In: Diagnosis and treatment of inborn errors of metabolism: contribution to an equal opportunity for children in Asia and Europe Istanbul. 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