{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:49:40Z","timestamp":1791150580342,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,7,28]],"date-time":"2006-07-28T00:00:00Z","timestamp":1154044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Glycogen storage disease type IV (GSD\u2010IV) is a rare autosomal recessive disorder due to mutations in the\n                      <jats:italic>GBE1<\/jats:italic>\n                      gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement of the GBE activity in cultured chorionic villi (CV) cells.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Two unrelated probands with severe hypotonia at birth and death during the neonatal period were diagnosed with GSD\u2010IV on the basis of postmortem histological findings. DNA analysis revealed truncating\n                      <jats:italic>GBE1<\/jats:italic>\n                      mutations in both families.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Prenatal diagnosis was performed in subsequent pregnancies by determination of branching enzyme activity and DNA analysis of CV or cultured amniocytes. Detailed autopsies of the affected fetuses at 14 and 24 weeks of gestation demonstrated intracellular inclusions of abnormal glycogen characteristic of GSD\u2010IV.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Prenatal diagnosis of GSD\u2010IV by DNA analysis is highly accurate in genetically confirmed cases. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.1533","type":"journal-article","created":{"date-parts":[[2006,7,28]],"date-time":"2006-07-28T05:47:34Z","timestamp":1154065654000},"page":"951-955","source":"Crossref","is-referenced-by-count":33,"title":["Prenatal diagnosis of glycogen storage disease type IV"],"prefix":"10.1002","volume":"26","author":[{"given":"H. 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