{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:10:44Z","timestamp":1790698244019,"version":"4.1.0"},"reference-count":41,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0664_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Gaucher disease type 1 (GD1) and Fabry disease (FD) are the two most common lysosomal storage diseases. For over three decades, effective enzyme replacement therapies (ERTs) have changed the fate of patients and offered a longer chance of survival and improve their quality of life.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0664_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The clinical and molecular findings, endocrinological features and metabolic status of 26 patients (16 with FD, and 10 with GD1) were evaluated. The results were compared to age- and gender-matched healthy individuals.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0664_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Patients with GD1 and FD were followed for 7.2\u00a0\u00b1\u00a04.7 and 6.4\u00a0\u00b1\u00a04.3 years, respectively. Calcium and magnesium levels in patients with GD1 were lower than in controls (p=0.01; p=0.002). Osteoporosis was detected in 20% (n=2) of GD1 patients and 12.5% (n=2) of FD patients. The HbA1c value of GD1 patients was significantly lower than both in control and Fabry patients (p=0.004; and p=0.007, respectively). There was a negative correlation between LysoGb3 and female gender (p=0.04; r=\u22120.49), but no correlation was found with any other biochemical parameters. There was a negative correlation between the LysoGb1 level and the neutrophil (p=0.03; r=\u22120.711) and thrombocyte levels (p=0.02; r=\u22120.767), and a positive correlation with ferritin levels (p&lt;0.001; r=0.867).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0664_abs_004\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Long time effective ERT seems to have beneficial effects on metabolic and hormonal status as well as primary target organs in both FD and GD1 patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0664","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T21:50:59Z","timestamp":1646430659000},"page":"519-527","source":"Crossref","is-referenced-by-count":2,"title":["Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2316-0790","authenticated-orcid":false,"given":"Melike","family":"Ersoy","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Division of Pediatric Metabolism, University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8127-8543","authenticated-orcid":false,"given":"Hamide","family":"Pi\u015fkinpa\u015fa","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine , Division of Endocrinology and Metabolism, University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,3,3]]},"reference":[{"key":"2023033123535394074_j_jpem-2021-0664_ref_001","doi-asserted-by":"crossref","unstructured":"Ferraz, MJ, Kallemeijn, WW, Mirzaian, M, Herrera Moro, D, Marques, A, Wisse, P, et al.. 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