{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T21:46:44Z","timestamp":1769636804241,"version":"3.49.0"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0336_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, different from GSD type 1a. Treatment with granulocyte-colony stimulating factor (G-CSF) is often required in the management of neutropenia and inflammatory bowel disease. Recently, an alternative treatment option to G-CSF has been preferred, like empagliflozin. To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0336_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective analysis of the clinical course of eight patients with GSD type 1b whose diagnosis was confirmed by molecular testing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0336_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The mean age at referral was four months. The diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies. One patient presented with an atypical clinical finding in the form of hydrocephalus at the time of first admission. The first symptom was abscess formation on the scalp due to neutropenia in another patient. Other patients had hypoglycemia at the time of admission. All patients presented suffered from neutropenia, which was managed with G-CSF, except one. Hospitalizations for infections were frequent. One patient developed chronic diarrhea and severe infections, which have been brought under control with empagliflozin.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0336_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Neutropenia is an essential finding in GSD 1b and responsible for complications. The coexistence of hypoglycemia and neutropenia should bring to mind GSD 1b. Empagliflozin can be a treatment option for neutropenia, which is resistant to G-CSF treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0336","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T10:40:39Z","timestamp":1696416039000},"page":"1092-1099","source":"Crossref","is-referenced-by-count":2,"title":["Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4766-300X","authenticated-orcid":false,"given":"Aynur","family":"K\u00fc\u00e7\u00fck\u00e7ongar Yava\u015f","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , \u00c7ankaya, Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6139-6027","authenticated-orcid":false,"given":"Ay\u015fenur","family":"Engin Erdal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , \u00c7ankaya, Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-0647","authenticated-orcid":false,"given":"Berrak","family":"Bilginer G\u00fcrb\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , \u00c7ankaya, Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4550-0717","authenticated-orcid":false,"given":"Aysel","family":"\u00dcnl\u00fcsoy Aksu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3569-276X","authenticated-orcid":false,"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases , Children\u2019s Hospital, Ankara Bilkent City Hospital , \u00c7ankaya, Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,10,5]]},"reference":[{"key":"2023111313421764457_j_jpem-2023-0336_ref_001","unstructured":"Glycogen Storage Disease\u00a0\u2013 StatPearls\u00a0\u2013 NCBI Bookshelf [Internet]. 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