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dc.contributor.authorYegul, Duygu
dc.contributor.authorGedikbasi, Asuman
dc.contributor.authorPiskinpasa, Hamide
dc.contributor.authorErsoy, Melike
dc.date.accessioned2022-07-04T15:55:10Z
dc.date.available2022-07-04T15:55:10Z
dc.identifier.citationErsoy M., Yegul D., Piskinpasa H., Gedikbasi A., "The correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy", TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, 2022
dc.identifier.issn0250-4685
dc.identifier.othervv_1032021
dc.identifier.otherav_c9792003-a57d-4448-8ac2-908fa7a9a97e
dc.identifier.urihttp://hdl.handle.net/20.500.12627/184675
dc.identifier.urihttps://doi.org/10.1515/tjb-2022-0002
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/c9792003-a57d-4448-8ac2-908fa7a9a97e/file
dc.description.abstractObjectives We aimed to determine the relationship of Lyso-Gb1 levels, bone biomarkers, and mutation findings with bone marrow burden (BMB) scores. Methods Lyso-Gb1 and bone biomarkers, and BMB scores of 10 Gaucher type 1 (GD1) patients under enzyme therapy were prospectively evaluated. Results Ten GD1 patients, aged between 4.5 and 40 (mean 23 +/- 11 years), were included in the study. Four patients were homozygous for L444P/L444P, and six patients were compound heterozygous for N370S/R415H. We found positive correlations between pain and BMB scores with Lyso-Gb1 levels (r=0.889, p=0.001 and r=0.701, p=0.035, respectively). There were negative correlations between bone mineral density (BMD) of both the lumbar spine and femoral neck between Lyso-Gb1 levels (r=-0.929, p=0.001 and r=-0.893, p=0.007, respectively). Patients with L444P/L444P mutation had higher Lyso-Gb1 levels and BMB, pain scores and lower BMD measurements than patients with N370S/R415H (p=0.01, p=0.02, p=0.03, p=0.04, p=0.04, respectively). Conclusions There was an apparent correlation between, Lyso-Gb1 levels, BMB scores and genotype in evaluating bone involvement in Gaucher patients.
dc.language.isoeng
dc.subjectClinical Biochemistry
dc.subjectCancer Research
dc.subjectMolecular Biology
dc.subjectDrug Discovery
dc.subjectAging
dc.subjectGeneral Biochemistry, Genetics and Molecular Biology
dc.subjectBiochemistry
dc.subjectStructural Biology
dc.subjectLife Sciences
dc.subjectTemel Bilimler
dc.subjectBiochemistry, Genetics and Molecular Biology (miscellaneous)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectSitogenetik
dc.titleThe correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy
dc.typeMakale
dc.relation.journalTURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
dc.contributor.departmentIstanbul Bakirkoy Dr Sadi Konuk Training & Res Ho , ,
dc.contributor.firstauthorID3401936


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