{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:32:35Z","timestamp":1777937555717,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T00:00:00Z","timestamp":1574208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100006942","name":"Medical University of South Carolina","doi-asserted-by":"publisher","award":["Intramural grant with no award number"],"award-info":[{"award-number":["Intramural grant with no award number"]}],"id":[{"id":"10.13039\/100006942","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:p>Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4\/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.<\/jats:p>","DOI":"10.1177\/1093526619890224","type":"journal-article","created":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T00:44:01Z","timestamp":1574297041000},"page":"301-305","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy"],"prefix":"10.1177","volume":"23","author":[{"given":"Daniel C","family":"Butler","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"W Bailey","family":"Glen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Schandl","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelina","family":"Phillips","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,11,20]]},"reference":[{"key":"bibr1-1093526619890224","unstructured":"Magoulas PL, El-Hattab AW.\n                      Glycogen Storage Disease Type IV. GeneReviews\u00ae\n                      . Seattle, WA: University of Washington; 2019."},{"key":"bibr2-1093526619890224","first-page":"11","volume":"5","author":"Andersen DH","year":"1956","journal-title":"Lab Invest"},{"key":"bibr3-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9026-5"},{"key":"bibr4-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"bibr5-1093526619890224","unstructured":"VarSeq\u2122\n                      [Software] (Version 8.x). Bozeman, MT: Golden Helix, Inc. http:\/\/www.goldenhelix.com. Accessed November 11, 2019."},{"key":"bibr6-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.002"},{"key":"bibr7-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1189"},{"key":"bibr8-1093526619890224","unstructured":"National Center for Biotechnology Information. https:\/\/www.ncbi.nlm.nih.gov\/snp\/. Accessed July 1, 2019."},{"key":"bibr9-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"bibr10-1093526619890224","unstructured":"Clinvar. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/. Accessed July 1, 2019."},{"key":"bibr11-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21517"},{"key":"bibr12-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22932"},{"key":"bibr13-1093526619890224","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"bibr14-1093526619890224","unstructured":"Connolly AJ, Finkbeiner WE, Ursell PC, Davis RL.\n                      Autopsy Pathology: A Manual and Atlas\n                      . 3rd ed. Tables B5 and B6. 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