Basit öğe kaydını göster

dc.contributor.authorUyanik, Bulent
dc.contributor.authorGEDİKBAŞI, Asuman
dc.contributor.authorErsoy, Melike
dc.date.accessioned2022-02-18T09:39:51Z
dc.date.available2022-02-18T09:39:51Z
dc.date.issued2021
dc.identifier.citationErsoy M., Uyanik B., GEDİKBAŞI A., "Evaluation of glycogen storage patients: Report of twelve novel variants and new clinical findings in a Turkish population", Genes, cilt.12, sa.12, 2021
dc.identifier.issn2073-4425
dc.identifier.othervv_1032021
dc.identifier.otherav_5201944e-f925-4c25-8ffe-e060cd7ca75f
dc.identifier.urihttp://hdl.handle.net/20.500.12627/177709
dc.identifier.urihttps://doi.org/10.3390/genes12121987
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/5201944e-f925-4c25-8ffe-e060cd7ca75f/file
dc.description.abstract© 2021 by the authors. Licensee MDPI, Basel, Switzerland.Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype–phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype–phenotype correlation in GSDs.
dc.language.isoeng
dc.subjectLife Sciences
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGenetics
dc.subjectGenetics (clinical)
dc.subjectHealth Sciences
dc.titleEvaluation of glycogen storage patients: Report of twelve novel variants and new clinical findings in a Turkish population
dc.typeMakale
dc.relation.journalGenes
dc.contributor.departmentUniversity of Health Sciences , ,
dc.identifier.volume12
dc.identifier.issue12
dc.contributor.firstauthorID2912543


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster