BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation

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Oz O., Karaca M., Atas N., Gonel A., Ercan M.

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, cilt.31, sa.7, ss.780-785, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 7
  • Basım Tarihi: 2021
  • Doi Numarası: 10.29271/jcpsp.2021.07.780
  • Dergi Adı: JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.780-785
  • Anahtar Kelimeler: Biotinidase deficiency, BTD gene, Newborn screening, Inherited metabolic disease, Newborn screening programme, NEWBORN, FAMILY
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings.