{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T00:01:57Z","timestamp":1752278517347,"version":"3.41.2"},"reference-count":26,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease is caused by mutations in the GBA1 gene, which encodes the\n                        \u03b2-glucocerebrosidase enzyme. The deficiency of this enzyme result in\n                        glucosylceramide and glucosylsphingosine accumulation, within lysosomes and\n                        resulted triggering inflammation and accumulating substrates affect multiple\n                        organ systems, causing progressive cellular damage. Evidence has shown that\n                        the accumulation of glucosylceramide in macrophages is associated with\n                        inflammatory processes, reactive oxygen species production and an imbalance\n                        between the pro-oxidants and the antioxidant reserve, resulting in oxidative\n                        stress and inflammation.<\/jats:p><jats:p> The aim of this study was to compare the oxidative stress status between\n                        patients with Gaucher disease and healthy controls.<\/jats:p><jats:p>Case-control study<\/jats:p><jats:p> This study included 10 patients with Gaucher disease aged between 2\u201340\n                        years, and 30 healthy controls. Total antioxidant capacity and total oxidant\n                        capacity parameters between these groups were compared.<\/jats:p><jats:p> Although the total antioxidant capacity value of the\n                        case group was higher, it was not significant. The total oxidant capacity\n                        and oxidative stress index values were significantly higher in the patient\n                        group (p&lt;0.05).<\/jats:p><jats:p> Our study showed that oxidative stress increased in patients with Gaucher\n                        disease. The results of our study may guide the application of antioxidant\n                        treatment in Gaucher disease patients as a supportive treatment.<\/jats:p>","DOI":"10.1055\/a-2515-2164","type":"journal-article","created":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T18:49:30Z","timestamp":1746470970000},"page":"209-213","source":"Crossref","is-referenced-by-count":0,"title":["Investigation of the Oxidative Process by Measuring Total Antioxidant\n                    Capacity and Total Oxidant Capacity in Patients with Gaucher\n                    Disease"],"prefix":"10.1055","volume":"237","author":[{"given":"Aynur","family":"K\u00fc\u00e7\u00fck\u00e7ongar Yava\u015f","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism, Ankara City Hospital, Cankaya,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5617-7778","authenticated-orcid":false,"given":"Eylem \u015eerife","family":"Kalkan","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism, Ankara City Hospital, Cankaya,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem \u00dcnal","family":"Uzun","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism, Kocaeli Universitesi, Kocaeli,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Gunduz","sequence":"additional","affiliation":[{"name":"Pediatric Metabolism, Ankara City Hospital, Cankaya,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zcan","family":"Erel","sequence":"additional","affiliation":[{"name":"Biochemistry, Ankara City Hospital, Cankaya, Turkey"},{"name":"Biochemistry, Ministry of Health Ankara Bilkent City Hospital, Ankara,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,5,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"85","DOI":"10.3390\/jcm12010085","article-title":"Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature\n                    Review","volume":"12","author":"G Castillon","year":"2022","journal-title":"J Clin Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"441","DOI":"10.3390\/ijms18020441","article-title":"Review of Gaucher Disease Pathophysiology, Clinical Presentation and\n                    Treatments","volume":"18","author":"J Stirnemann","year":"2017","journal-title":"Int J Mol Sci"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgmr.2015.05.001","article-title":"Oxidative stress parameters of Gaucher disease type I patients","volume":"4","author":"A S Mello","year":"2015","journal-title":"Molecular Genetics and Metabolism Reports"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.biocel.2006.07.001","article-title":"Free radicals and antioxidants in normal physiological functions and human\n                    disease","volume":"39","author":"M Valko","year":"2007","journal-title":"The International Journal of Biochemistry & Cell\n                    Biology"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgmr.2015.05.001","article-title":"Oxidative stress parameters of Gaucher disease type I patients","volume":"4","author":"A S Mello","year":"2015","journal-title":"Molecular Genetics and Metabolism Reports"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s12011-019-01709-3","article-title":"Oxidative Stress Parameters, Trace Elements, and Lipid Profile in Iranian\n                    Patients with Gaucher Disease","volume":"193","author":"H Mozafari","year":"2020","journal-title":"Biol Trace Elem Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1080\/10715760290006411","article-title":"Assessment of antioxidant activity by using different in vitro methods","volume":"36","author":"K Schlesier","year":"2002","journal-title":"Free Radic Res"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.clinbiochem.2005.08.008","article-title":"A new automated colorimetric method for measuring total oxidant status","volume":"38","author":"O Erel","year":"2005","journal-title":"Clin Biochem"},{"key":"ref9","first-page":"663","article-title":"Oxidative Stress in Intox\u0131cation Type Inborn Errors of Metabolism using\n                    Thiol-Disulfide Ratio","volume":"30","author":"V Cam","year":"2021","journal-title":"J Coll Physicians Surg Pak"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ymgme.2009.06.007","article-title":"Profiling of oxidative stress in patients with inborn errors of metabolism","volume":"98","author":"P J Mc Guire","year":"2009","journal-title":"Mol Genet Metab"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.freeradbiomed.2021.12.312","article-title":"An investigation of different intracellular parameters for Inborn Errors of\n                    Metabolism: Cellular stress, antioxidant response and autophagy","volume":"179","author":"N Vardar Acar","year":"2022","journal-title":"Free Radic Biol Med"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"5616","DOI":"10.3390\/molecules26185616","article-title":"Oxidative Stress in Mucopolysaccharidoses: Pharmacological Implications","volume":"26","author":"K Pierzynowska","year":"2021","journal-title":"Molecules."},{"key":"ref13","first-page":"1852","article-title":"Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients\n                    treated with enzyme replacement therapy","volume":"1","author":"B Donida","year":"2015","journal-title":"Biochim Biophys Acta \u2013 Mol Basis Dis"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pgen.1006603","article-title":"Protecting cells by protecting their vulnerable lysosomes: identification of a\n                    new mechanism for preserving lysosomal functional integrity upon oxidative\n                    stress","volume":"13","author":"R Pascua-Maestro","year":"2017","journal-title":"PLoS Genet"},{"key":"ref15","first-page":"1","article-title":"Oxidative stress parameters of Gaucher disease type I patients","volume":"22","author":"A S Mello","year":"2015","journal-title":"Mol Genet Metab Rep"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.neuint.2012.10.010","article-title":"Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical\n                    damage","volume":"62","author":"MW J Cleeter","year":"2013","journal-title":"Neurochemistry International"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/jcp.21023","article-title":"Altered intracellular redox status in Gaucher disease fibroblasts and impairment\n                    of adaptive response against oxidative stress","volume":"212","author":"M Deganuto","year":"2007","journal-title":"J Cell Physiol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13023-017-0574-8","article-title":"Coenzyme Q 10 partially restores pathological alterations in a macrophage model\n                    of Gaucher disease","volume":"12","author":"M. de la Mata","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.bbadis.2011.11.001","article-title":"Globotriaosylceramide is correlated with oxidative stress and inflammation in\n                    Fabry patients treated with enzyme replacement therapy","volume":"1822","author":"G B Biancini","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"ref20","first-page":"100667","article-title":"Patients with Gaucher disease display systemic oxidative stress dependent on\n                    therapy status","volume":"25","author":"R V Kartha","year":"2020","journal-title":"Mol Genet Metab Rep"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/jcp.21023","article-title":"Altered intracellular redox status in Gaucher disease fibroblasts and impairment\n                    of adaptive response against oxidative stress","volume":"212","author":"M Deganuto","year":"2007","journal-title":"J Cell Physiol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.cca.2005.07.022","article-title":"Blood oxidative stress markers in Gaucher disease patients","volume":"364","author":"F M Roversi","year":"2006","journal-title":"Clin Chim Acta"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s12011-019-01709-3","article-title":"Oxidative Stress Parameters, Trace Elements, and Lipid Profile in Iranian\n                    Patients with Gaucher Disease","volume":"193","author":"H Mozafari","year":"2020","journal-title":"Biol Trace Elem Res"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1177\/1076029613489595","article-title":"Oxidative stress, trace elements, and circulating microparticles in patients\n                    with Gaucher disease before and after enzyme replacement therapy","volume":"21","author":"A M Zahran","year":"2015","journal-title":"Clin Appl Thromb Hemost"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/jimd.12182","article-title":"Neurochemical abnormalities in patients with type 1 Gaucher disease on standard\n                    of care therapy","volume":"43","author":"R. V Kartha","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1002\/ptr.5304","article-title":"Therapeutic Potential of Resveratrol in Type I Gaucher Disease","volume":"29","author":"C H Seo","year":"2015","journal-title":"Phytother Res"}],"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2515-2164.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T10:57:06Z","timestamp":1752231426000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2515-2164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,5]]},"references-count":26,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2025,7,10]]},"published-print":{"date-parts":[[2025,7]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2515-2164","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"type":"print","value":"0300-8630"},{"type":"electronic","value":"1439-3824"}],"subject":[],"published":{"date-parts":[[2025,5,5]]}}}