{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:15:55Z","timestamp":1790180155909,"version":"4.1.0"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0292_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. SLC35A2-CDG is a rare form of CDG caused by mutations in the X-linked gene that encodes a UDP-Galactose transporter. The manifestations of the disease include seizures, failure to thrive, delayed myelination, and cerebral atrophy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0292_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We describe herein a severe female child with intractable seizures, microcephaly, growth retardation, hypotonia, global developmental delay, facial dysmorphism, skeletal findings, cerebral\/cerebellar atrophy, and thin corpus callosum, and a mildly affected male carrying a novel variant with seizures and mild global developmental delay who were found by whole exome sequencing (WES) for <jats:italic>SLC35A2<\/jats:italic> mutations previously not reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0292_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our findings expand the number of reported cases and add novel variants to the repertoire of SLC35A2-CDG.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0292","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:10:20Z","timestamp":1624407020000},"page":"1185-1189","source":"Crossref","is-referenced-by-count":2,"title":["SLC35A2-CDG: novel variants with two ends of the spectrum"],"prefix":"10.1515","volume":"34","author":[{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ankara City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamit","family":"\u00d6zy\u00fcrek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology , Ankara City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclhan","family":"Karakaya Molla","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Civelek \u00dcrey","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6822-1713","authenticated-orcid":false,"given":"Oya","family":"K\u0131reker K\u00f6yl\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aynur","family":"K\u00fc\u00e7\u00fck\u00e7ongar Yava\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma M\u00fcjgan","family":"S\u00f6nmez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,6,22]]},"reference":[{"key":"2021090720501743868_j_jpem-2021-0292_ref_001","doi-asserted-by":"crossref","unstructured":"Barone, R, Fiumara, A, Jaeken, J. Congenital disorders of glycosylation with emphasis on cerebellar involvement. Semin Neurol 2014;34:357\u201366. https:\/\/doi.org\/10.1055\/s-0034-1387197.","DOI":"10.1055\/s-0034-1387197"},{"key":"2021090720501743868_j_jpem-2021-0292_ref_002","doi-asserted-by":"crossref","unstructured":"D\u00f6rre, K, Olczak, M, Wada, Y, Sosicka, P, Gr\u00fcneberg, M, Reunert, J, et al.. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis 2015;38:931\u201340. https:\/\/doi.org\/10.1007\/s10545-015-9828-6.","DOI":"10.1007\/s10545-015-9828-6"},{"key":"2021090720501743868_j_jpem-2021-0292_ref_003","doi-asserted-by":"crossref","unstructured":"Westenfield, K, Sarafoglou, K, Speltz, LC, Pierpont, EI, Steyermark, J, Nascene, D, et al.. Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. BMC Med Genet 2018;19:100. https:\/\/doi.org\/10.1186\/s12881-018-0617-6.","DOI":"10.1186\/s12881-018-0617-6"},{"key":"2021090720501743868_j_jpem-2021-0292_ref_004","doi-asserted-by":"crossref","unstructured":"Vals, MA, Ashikov, A, Ilves, P, Loorits, D, Zeng, Q, Barone, R, et al.. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. J Inherit Metab Dis 2019;42:553\u201364. https:\/\/doi.org\/10.1002\/jimd.12055.","DOI":"10.1002\/jimd.12055"},{"key":"2021090720501743868_j_jpem-2021-0292_ref_005","doi-asserted-by":"crossref","unstructured":"Ng, BG, Sosicka, P, Agadi, S, Almannai, M, Bacino, CA, Barone, R, et al.. SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat 2019;40:908\u201325. https:\/\/doi.org\/10.1002\/humu.23731.","DOI":"10.1002\/humu.23731"},{"key":"2021090720501743868_j_jpem-2021-0292_ref_006","unstructured":"Lang, CH, Yang, Y, Niu, XY, Yang, XL, Chen, Y, Zhang, YH. Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation type \u2161. Zhonghua Er Ke Za Zhi 2020;58:586\u201390. https:\/\/doi.org\/10.3760\/cma.j.cn112140-20200308-00198."},{"key":"2021090720501743868_j_jpem-2021-0292_ref_007","doi-asserted-by":"crossref","unstructured":"Quelhas, D, Correia, J, Jaeken, J, Azevedo, L, Lopes-Marques, M, Bandeira, A, et al.. SLC35A2-CDG: novel variant and review. Mol Genet Metab Rep 2021;26:100717. https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100717.","DOI":"10.1016\/j.ymgmr.2021.100717"},{"key":"2021090720501743868_j_jpem-2021-0292_ref_008","doi-asserted-by":"crossref","unstructured":"Witters, P, Tahata, S, Barone, R, \u00d5unap, K, Salvarinova, R, Gr\u00f8nborg, S, et al.. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med 2020;22:1102\u20137. https:\/\/doi.org\/10.1038\/s41436-020-0767-8.","DOI":"10.1038\/s41436-020-0767-8"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0292\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0292\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T20:51:52Z","timestamp":1631047912000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0292\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,22]]},"references-count":8,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,6,30]]},"published-print":{"date-parts":[[2021,9,27]]}},"alternative-id":["10.1515\/jpem-2021-0292"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0292","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,22]]}}}