Pediatric gaucher experience in South Marmara region of Turkey

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dc.contributor.buuauthorErdemir, Gülin
dc.contributor.buuauthorÖzkan, Tanju
dc.contributor.buuauthorÖzgür, Taner
dc.contributor.buuauthorYazıcı, Zeynep
dc.contributor.buuauthorÖzdemir, Özlem
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik Gastroenteroloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik Nöroloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-5740-9729tr_TR
dc.contributor.researcheridAAG-8381-2021tr_TR
dc.contributor.researcheridAAI-2303-2021tr_TR
dc.contributor.scopusid36015044400tr_TR
dc.contributor.scopusid7004474005tr_TR
dc.contributor.scopusid36087775800tr_TR
dc.contributor.scopusid6701668723tr_TR
dc.contributor.scopusid26647804400tr_TR
dc.date.accessioned2022-03-21T13:17:07Z
dc.date.available2022-03-21T13:17:07Z
dc.date.issued2011-10
dc.description.abstractBackground/aims: The aim was to represent the clinical characteristics of six children with Gaucher disease and to describe the results of three years' enzyme replacement therapy. Material and Methods: The data of six Gaucher patients treated with imiglucerase for more than three years were collected. Age, gender, ant hropometric measurements, physical examination findings, ophthalmological evaluations, blood counts, liver function tests, liver and spleen sizes, and bone mineral density of the patients were recorded. Clinical presentations, progressions and therapeutic achievements were evaluated. Results: At the time of diagnosis, all patients were clinically type 1 Gaucher disease. Bone lesions, thrombocytopenia and hepatosplenomegaly were found in all patients at diagnosis. After three years of therapy, normalization of blood cell counts, liver and spleen sizes, bone mineral density, and growth was achieved in all patients. Two patients developed neurological symptoms on enzyme replacement therapy, and the diagnosis in these patients was changed to Gaucher type 3. We observed progression of vertebral bone lesions in three patients despite treatment. Conclusions: The results of enzyme replacement therapy are satisfying, but the possibility of deterioration in clinical findings despite therapy should be kept in mind.en_US
dc.identifier.citationErdemir, G. vd. (2011). "Pediatric gaucher experience in South Marmara region of Turkey". Turkish Journal of Gastroenterology, 22(5), 500-504.en_US
dc.identifier.endpage504tr_TR
dc.identifier.issn1300-4948
dc.identifier.issn2148-5607
dc.identifier.issue5tr_TR
dc.identifier.pubmed22234757tr_TR
dc.identifier.scopus2-s2.0-84855423238tr_TR
dc.identifier.startpage500tr_TR
dc.identifier.urihttps://doi.org/10.4318/tjg.2011.0244
dc.identifier.urihttps://www.turkjgastroenterol.org/en/pediatric-gaucher-experience-in-south-marmara-region-of-turkey-134117
dc.identifier.urihttp://hdl.handle.net/11452/25240
dc.identifier.volume22tr_TR
dc.identifier.wos000298767500007tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.trdizinTrDizinen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherAvesen_US
dc.relation.journalTurkish Journal of Gastroenterologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGastroenterology & hepatologyen_US
dc.subjectGaucher diseaseen_US
dc.subjectChildrenen_US
dc.subjectTreatment resultsen_US
dc.subjectEnzyme replacement therapyen_US
dc.subjectDiseaseen_US
dc.subjectChildrenen_US
dc.subjectGeneen_US
dc.subjectGbaen_US
dc.subject.emtreeImigluceraseen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAnthropometryen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeBlood cell counten_US
dc.subject.emtreeBone densityen_US
dc.subject.emtreeBone lesionen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeDisease courseen_US
dc.subject.emtreeDrug dose increaseen_US
dc.subject.emtreeEnzyme replacementen_US
dc.subject.emtreeGaucher diseaseen_US
dc.subject.emtreeGroups by ageen_US
dc.subject.emtreeHepatosplenomegalyen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeLiver function testen_US
dc.subject.emtreeLiver sizeen_US
dc.subject.emtreeOphthalmologyen_US
dc.subject.emtreePhysical examinationen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreeSchool childen_US
dc.subject.emtreeSex differenceen_US
dc.subject.emtreeSpleen sizeen_US
dc.subject.emtreeThrombocytopeniaen_US
dc.subject.emtreeTurkey (republic)en_US
dc.subject.meshAdolescenten_US
dc.subject.meshBone densityen_US
dc.subject.meshChilden_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshEnzyme replacement therapyen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-up studiesen_US
dc.subject.meshGaucher diseaseen_US
dc.subject.meshGlucosylceramidaseen_US
dc.subject.meshHepatomegalyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshRecombinant proteinsen_US
dc.subject.meshSplenomegalyen_US
dc.subject.meshTreatment outcomeen_US
dc.subject.meshTurkeyen_US
dc.subject.scopusGaucher Disease; Glucosylceramidase; Imigluceraseen_US
dc.subject.wosGastroenterology & hepatologyen_US
dc.titlePediatric gaucher experience in South Marmara region of Turkeyen_US
dc.typeArticle
dc.wos.quartileQ4en_US

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