Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

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Aslanger A. D., Şengenç E., Kölemen A. B., Demiral E., Alkan A., İşcan A., ...Daha Fazla

The Turkish journal of pediatrics, cilt.64, sa.1, ss.69-78, 2022 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 64 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.24953/turkjped.2020.3713
  • Dergi Adı: The Turkish journal of pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.69-78
  • Anahtar Kelimeler: GALC gene, Krabbe disease, newborn screening tests, GALC GENE, MUTATIONS
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Bezmiâlem Vakıf Üniversitesi Adresli: Evet

Özet

Background. Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis of Krabbe disease consists of biallelic mutations in the GALC gene, but the genetic spectrum in the Turkish population is poorly defined. We aimed to present a Turkish case-series with infantile-onset Krabbe disease, define the clinical and molecular findings and compare the genetic spectrum with the mutations previously reported in the literature.