{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:16:47Z","timestamp":1789953407632,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,6,10]],"date-time":"2016-06-10T00:00:00Z","timestamp":1465516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,6,10]],"date-time":"2016-06-10T00:00:00Z","timestamp":1465516800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100004965","name":"Sixth Framework Programme (BE)","doi-asserted-by":"publisher","award":["Euroglycan"],"award-info":[{"award-number":["Euroglycan"]}],"id":[{"id":"10.13039\/501100004965","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Alpha\u20101,3\u2010glucosyltransferase congenital disorder of glycosylation (ALG6\u2010CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We found hypotonia and developmental delay in all ALG6\u2010CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in &lt;50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes, was one of the most significant complaints. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year\u2010old Dutch woman. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype\u2013phenotype correlation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>ALG6\u2010CDG has been now described in 89 patients, making it the second most common type of CDG. It has a recognizable phenotype and a primary neurologic presentation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-016-9945-x","type":"journal-article","created":{"date-parts":[[2016,6,10]],"date-time":"2016-06-10T08:33:23Z","timestamp":1465547603000},"page":"713-723","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["ALG6\u2010CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies"],"prefix":"10.1002","volume":"39","author":[{"given":"Eva","family":"Morava","sequence":"first","affiliation":[{"name":"Center for Metabolic Diseases, Department of Pediatrics University Hospitals Leuven Leuven Belgium"},{"name":"Tulane University Medical School Hayward Genetics Center New Orleans LA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Tiemes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Radboud University Medical Center Nijmegen The Netherlands"},{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Thiel","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine, Kinderheilkunde I University of Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Seta","sequence":"additional","affiliation":[{"name":"Biochimie M\u00e9tabolique H\u00f4pital Bichat\u2010Claude Bernard Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[{"name":"Reference Center of Metabolism, Necker\u2010Enfants Malades Hospital, APHP, Imagine Institute University Paris\u2010Descartes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"de Klerk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus MC \u2013 University Medical Center Rotterdam, Emma Hospital Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Mulder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Free University Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Laboratory Genetic Metabolic Diseases University of Maastricht Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gepke","family":"Visser","sequence":"additional","affiliation":[{"name":"Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"van Hasselt","sequence":"additional","affiliation":[{"name":"Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dafne D. G.","family":"Horovitz","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Fischinger Moura","family":"de Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida V. D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Green","sequence":"additional","affiliation":[{"name":"National Centre for Medical Genetics Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al\u2010Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciella","family":"Uziel","sequence":"additional","affiliation":[{"name":"University of Milan Institute of Neurology Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Sigaudy","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Timone Enfant Marseille 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