Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

OKUR İ., Ezgu F. S., BİBEROĞLU G., Turner L., ERTEN Y., Isitman M., ...Daha Fazla

GENE, cilt.527, sa.1, ss.42-47, 2013 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 527 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2013.05.050
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.42-47
  • Anahtar Kelimeler: Chronic renal failure, Dialysis, Fabry disease, Screening, Novel mutation, FEMALE HEMODIALYSIS-PATIENTS, LYSOSOMAL STORAGE DISORDERS, GALACTOSIDASE-A DEFICIENCY, ALPHA-GALACTOSIDASE, ENZYMATIC DIAGNOSIS, BLOOD SPOTS, PREVALENCE, POPULATION, NATIONWIDE, INVOLVEMENT
  • Gazi Üniversitesi Adresli: Evet

Özet

Background: Chronic renal failure (CRF) is a serious complication of Fabry disease (FD). The aims of the present study were to determine the prevalence of unrecognized FD in Turkish hemodialysis population and to investigate the molecular background.