{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:19Z","timestamp":1791828559470,"version":"4.3.4"},"reference-count":31,"publisher":"Walter de Gruyter GmbH","issue":"9","license":[{"start":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T00:00:00Z","timestamp":1692921600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100019533","name":"Moderna","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019533","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Glycogen storage disease (GSD) type 1a is an inherited autosomal recessive metabolic disease caused by a deficiency in glucose-6-phosphatase activity. The objectives of this research were to systematically review the published literature on the epidemiology of GSD 1a and to assess the performance of reported epidemiology measures in a simulation model. In this systematic literature review 2,539 record titles and abstracts were screened. Of these, only 11 studies contained relevant data on GSD 1a disease epidemiology. Reported disease frequency ranged from 0.085\/100,000 to 10.3\/100,000 newborns when considering all the GSD literature. When this was narrowed to GSD 1 and\u00a0GSD 1a, the range was tightened to 0.25\u20133.02\/100,000 and 0.085\u20134.9\/100,000 newborns, respectively. Most of the identified studies counted the number of diagnoses in a defined period and related to the number of births in the same (Dx method) or different time period (DoB method). The simulation model results indicate that in most of the situations, the Dx method provides a closer estimate to the\u00a0true disease incidence than the DoB method. Despite the scarcity of epidemiology data, the results of this systematic review strongly support that GSD 1a and its parent disease groups (GSD and GSD 1) are rare diseases.<\/jats:p>","DOI":"10.1515\/jpem-2023-0127","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T09:57:07Z","timestamp":1692871027000},"page":"809-817","source":"Crossref","is-referenced-by-count":7,"title":["Systematic literature review of the epidemiology of glycogen storage disease type 1a"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1961-9607","authenticated-orcid":false,"given":"Tam\u00e1s","family":"Zelei","sequence":"first","affiliation":[{"name":"Syreon Research Institute , Budapest , Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e1ndor","family":"Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"Syreon Research Institute , Budapest , Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Finn","sequence":"additional","affiliation":[{"name":"Moderna Therapeutics Inc. , Cambridge , MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e1vid","family":"Nagy","sequence":"additional","affiliation":[{"name":"Syreon Research Institute , Budapest , Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanja","family":"Sikirica","sequence":"additional","affiliation":[{"name":"Moderna Therapeutics Inc. , Cambridge , MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine B.","family":"Carlson","sequence":"additional","affiliation":[{"name":"Moderna Therapeutics Inc. , Cambridge , MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Vok\u00f3","sequence":"additional","affiliation":[{"name":"Syreon Research Institute , Budapest , Hungary"},{"name":"Semmelweis University , Budapest , Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,8,25]]},"reference":[{"key":"2023090517184944480_j_jpem-2023-0127_ref_001","doi-asserted-by":"crossref","unstructured":"R\u00fcckinger, S, Boneberger, A. 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