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It presents in the newborn period as a life\u2010threatening disease, whose clinical picture can be resolved by a galactose\u2010restricted diet. The dietary treatment proves, however, insufficient in preventing severe long\u2010term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients\u2019 and their families\u2019 lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover, an international galactosemia network has been established, which shall act as a platform for expertise and research in galactosemia. Herein are reviewed some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research.<\/jats:p>","DOI":"10.1007\/s10545-017-0029-3","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T11:51:50Z","timestamp":1489060310000},"page":"325-342","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":110,"title":["Sweet and sour: an update on classic galactosemia"],"prefix":"10.1002","volume":"40","author":[{"given":"Ana I.","family":"Coelho","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Department of Clinical Genetics Maastricht University Medical Centre PO Box 5800 P. Debyelaan 25 Maastricht 6202 AZ The Netherlands"}]},{"given":"M. Estela","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Department of Clinical Genetics Maastricht University Medical Centre PO Box 5800 P. Debyelaan 25 Maastricht 6202 AZ The Netherlands"}]},{"given":"Jo\u00e3o B.","family":"Vicente","sequence":"additional","affiliation":[{"name":"Instituto de Tecnologia Qu\u00edmica e Biol\u00f3gica Ant\u00f3nio Xavier Universidade Nova de Lisboa Oeiras Portugal"}]},{"given":"Isabel","family":"Rivera","sequence":"additional","affiliation":[{"name":"Metabolism &amp; Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy Universidade de Lisboa Lisbon Portugal"},{"name":"Department of Biochemistry and Human Biology, Faculty of Pharmacy Universidade de Lisboa Lisbon Portugal"}]}],"member":"311","published-online":{"date-parts":[[2017,3,9]]},"reference":[{"key":"e_1_2_18_2_1","first-page":"1379","article-title":"Clouds over galactosaemia","volume":"2","author":"Anonymous","year":"1982","journal-title":"Lancet"},{"key":"e_1_2_18_3_1","doi-asserted-by":"publisher","DOI":"10.1037\/0894-4105.18.4.658"},{"key":"e_1_2_18_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380060108"},{"key":"e_1_2_18_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-012-1983-0"},{"key":"e_1_2_18_6_1","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1542\/peds.78.4.606","article-title":"Computed tomographic demonstration of cerebral edema in a child with galactosemia","volume":"78","author":"Belman AL","year":"1986","journal-title":"Pediatrics"},{"key":"e_1_2_18_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02143805"},{"key":"e_1_2_18_8_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1429.038"},{"key":"e_1_2_18_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.03.007"},{"key":"e_1_2_18_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-15720-2_7"},{"key":"e_1_2_18_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711320"},{"key":"e_1_2_18_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014271"},{"key":"e_1_2_18_13_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.110423"},{"key":"e_1_2_18_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.026"},{"key":"e_1_2_18_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-9120(91)80003-L"},{"key":"e_1_2_18_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0306-9877(02)00347-X"},{"key":"e_1_2_18_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0159-x"},{"key":"e_1_2_18_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0382-0"},{"key":"e_1_2_18_19_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022875629436"},{"key":"e_1_2_18_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.037671"},{"key":"e_1_2_18_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e423"},{"key":"e_1_2_18_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1253-2"},{"key":"e_1_2_18_23_1","first-page":"79","article-title":"Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation","volume":"24","author":"Briones P","year":"2001","journal-title":"JIMD"},{"key":"e_1_2_18_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20544"},{"key":"e_1_2_18_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp080"},{"key":"e_1_2_18_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/8.4.351"},{"key":"e_1_2_18_27_1","first-page":"604","article-title":"Erythrocyte galactose 1\u2010phosphate quantified by isotope\u2010dilution gas chromatography\u2013mass spectrometry","volume":"48","author":"Chen J","year":"2002","journal-title":"Clin Chem"},{"key":"e_1_2_18_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(02)00133-X"},{"key":"e_1_2_18_29_1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1017\/CBO9780511544682.011","volume-title":"Newborn screening. 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