{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T15:44:58Z","timestamp":1785167098705,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T00:00:00Z","timestamp":1501804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>ALG13\u2010CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N\u2010glycosylation studies in plasma were normal. ICAM\u20101 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity. Adding D\u2010galactose to the patient's fibroblast culture increased ICAM\u20101 expression in vitro, offering a potential treatment option in ALG13\u2010CDG. The present report is a new example for an N\u2010glycosylation disorder, that may present with normal transferrin isoform analysis, and also demonstrates, that CDG type I patients can have normal cognitive development.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38377","type":"journal-article","created":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T13:52:39Z","timestamp":1501854759000},"page":"2772-2775","source":"Crossref","is-referenced-by-count":20,"title":["ALG13\u2010CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing"],"prefix":"10.1002","volume":"173","author":[{"given":"Therese E.","family":"Gadomski","sequence":"first","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana"},{"name":"Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melody","family":"Bolton","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Abdulaziz Medical City King Saud bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Dvorak","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olalekan A.","family":"Ogunsakin","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen L.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7441-700X","authenticated-orcid":false,"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana"},{"name":"Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36233"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","unstructured":"D\u00f6rre K. Olczak M. Wada Y. Sosicka P Gr\u00fcneberg M Reunert J \u2026Marquardt T. (2015). A new case of UDP\u2010galactose transporter deficiency (SLC35A2\u2010CDG): Molecular basis clinical phenotype and therapeutic approach.Journal of Inherited Metabolic Diseases 38(5) 931\u2013940.","DOI":"10.1007\/s10545-015-9828-6"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.024"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1553-6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0050-6"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.09.011"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu199"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq261"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.003"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9720-9"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_416"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.41"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38377","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38377","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38377","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T22:31:25Z","timestamp":1693348285000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,4]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/ajmg.a.38377"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38377","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,4]]}}}