{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:28:58Z","timestamp":1790270938289,"version":"4.1.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.ymgme.2025.109173","type":"journal-article","created":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T11:55:47Z","timestamp":1749470147000},"page":"109173","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and genetic features of Classic Galactosemia in the south of Brazil"],"prefix":"10.1016","volume":"145","author":[{"given":"Leonardo","family":"Sim\u00e3o Medeiros","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas Ferreira","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia Fernandes","family":"Lorea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Farret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiane Michelin","family":"Tirelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Medeiros","family":"Sebasti\u00e3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Bender","family":"Pasetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Fischinger Moura","family":"de Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiano","family":"de Oliveira Poswar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Borges","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Marcano-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Sperb-Ludwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra Maria","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lav\u00ednia","family":"Schuler-Faccini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa Doederlein","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2025.109173_bb0005","series-title":"GeneReviews","article-title":"Classic Galactosemia and Clinical Variant Galactosemia","author":"Berry","year":"2000"},{"key":"10.1016\/j.ymgme.2025.109173_bb0010","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/s13023-019-1047-z","article-title":"The natural history of classic galactosemia: lessons from the GalNet registry","volume":"14","author":"Rubio-Gozalbo","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2025.109173_bb0015","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10545-012-9507-9","article-title":"Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment","volume":"36","author":"Coss","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2025.109173_bb0020","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s12881-016-0300-8","article-title":"Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations","volume":"17","author":"Garcia","year":"2016","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ymgme.2025.109173_bb0025","article-title":"Molecular analysis of GALT gene in Argentinian population: correlation with enzyme activity and characterization of a novel Duarte-like allele","volume":"25","author":"Crespo","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgme.2025.109173_bb0030","doi-asserted-by":"crossref","first-page":"S333","DOI":"10.1007\/s10545-008-0905-y","article-title":"Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia","volume":"31","author":"Vel\u00e1zquez-Arag\u00f3n","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2025.109173_bb0035","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1471-2431-2-7","article-title":"The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa","volume":"2","author":"Henderson","year":"2002","journal-title":"BMC Pediatr."},{"key":"10.1016\/j.ymgme.2025.109173_bb0040","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1053\/j.semperi.2015.03.002","article-title":"Current status of newborn screening worldwide: 2015","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin. Perinatol."},{"key":"10.1016\/j.ymgme.2025.109173_bb0045","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.ymgme.2016.12.012","article-title":"Nine years of newborn screening for classical galactosemia in the Netherlands: effectiveness of screening methods, and identification of patients with previously unreported phenotypes","volume":"120","author":"Welling","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2025.109173_bb0050","first-page":"334","article-title":"Automated fluorometric micromethod for detection of transferase-deficiency galactosemia","volume":"83","author":"Frazier","year":"1974","journal-title":"J. Lab. Clin. Med."},{"key":"10.1016\/j.ymgme.2025.109173_bb0055","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2022.821582","article-title":"The Brazilian rare genomes project: validation of whole genome sequencing for rare diseases diagnosis","volume":"9","author":"Coelho","year":"2022","journal-title":"Front. Mol. Biosci."},{"key":"10.1016\/j.ymgme.2025.109173_bb0060","doi-asserted-by":"crossref","first-page":"590","DOI":"10.3174\/ajnr.A7016","article-title":"Neuroradiologic phenotyping of Galactosemia: from the neonatal form to the chronic stage","volume":"42","author":"Rossi-Espagnet","year":"2021","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.ymgme.2025.109173_bb0065","doi-asserted-by":"crossref","first-page":"fcaa006","DOI":"10.1093\/braincomms\/fcaa006","article-title":"Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers","volume":"2","author":"Welsink-Karssies","year":"2020","journal-title":"Brain Commun."},{"key":"10.1016\/j.ymgme.2025.109173_bb0070","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s10545-016-9936-y","article-title":"Appropriateness of newborn screening for classic galactosaemia: a systematic review","volume":"39","author":"Varela-Lema","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2025.109173_bb0075","doi-asserted-by":"crossref","first-page":"401","DOI":"10.5505\/tjh.2012.65148","article-title":"An unusual presentation of galactosemia: hemophagocytic lymphohistiocytosis","volume":"29","author":"Kundak","year":"2012","journal-title":"Turk. J. Haematol."},{"key":"10.1016\/j.ymgme.2025.109173_bb0080","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ymgme.2019.01.016","article-title":"The ability of an LC-MS\/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency","volume":"126","author":"Demirbas","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2025.109173_bb0085","article-title":"The genetic basis of galactosemia in Iranian patients: identification of twenty novel mutations in GALT, GALK1 and GALE gene","author":"Moody","year":"2023","journal-title":"Res. Square"},{"key":"10.1016\/j.ymgme.2025.109173_bb0090","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225001647?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225001647?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T07:55:09Z","timestamp":1764834909000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719225001647"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S1096719225001647"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109173","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic features of Classic Galactosemia in the south of Brazil","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109173","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"109173"}}