{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:44:32Z","timestamp":1773787472939,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":322,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG\u2010Ie is a rare subtype caused by mutations in the\n                    <jats:italic>DPM1<\/jats:italic>\n                    gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction, elevated creatine kinase, abnormal electroencephalogram (EEG), and abnormal cranial magnetic resonance imaging (MRI) findings, which have been reported in previous cases. However, we note that this case had previously undescribed findings of the CDG\u2010Ie phenotype, including hearing abnormalities and decreased parathyroid hormone levels. She carries compound heterozygous variants in the\n                    <jats:italic>DPM1<\/jats:italic>\n                    gene: a paternal [c.1A&gt;G (p.M1V)] start codon mutation and a maternal [c.371A&gt;G (p.H124R), (NM_003859)] missense variant. We present the 12th case known worldwide to date.\n                  <\/jats:p>","DOI":"10.1155\/crpe\/5573260","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T12:05:32Z","timestamp":1763553932000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of Compound Heterozygous\n                    <i>DPM1<\/i>\n                    Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie"],"prefix":"10.1155","volume":"2025","author":[{"given":"Wei","family":"Song","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenzhi","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8536-7538","authenticated-orcid":false,"given":"Li","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.06.016"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.10.45"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci8691"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci7302"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_7"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000219430.52532.8e"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1023\/b:boli.0000042984.42433.d8"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.889829"},{"key":"e_1_2_11_9_2","first-page":"695","article-title":"Clinical and Genetic Analysis of Congenital Disorder of Glycosylation Type Ie With Congenital Muscular Dystrophy","volume":"38","author":"Qi J.","year":"2020","journal-title":"Journal of Clinical Pediatrics"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23632"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvu066"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.024"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200470"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.146"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.177"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.10.012"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.11.2475"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.035931"},{"key":"e_1_2_11_19_2","article-title":"Recent Advances in \u03b1-Dystroglycanopathy","author":"Xiao-Na F. U.","year":"2019","journal-title":"Progress in Physiological Sciences"},{"key":"e_1_2_11_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/5573260","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crpe\/5573260","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/5573260","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T19:06:16Z","timestamp":1773774376000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crpe\/5573260"}},"subtitle":[],"editor":[{"given":"Nur","family":"Arslan","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crpe\/5573260"],"URL":"https:\/\/doi.org\/10.1155\/crpe\/5573260","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-12-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"5573260"}}