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, vol.31, no.7, pp.780-785, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 7
  • Publication Date: 2021
  • Doi Number: 10.29271/jcpsp.2021.07.780
  • Journal Name: JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.780-785
  • Keywords: Biotinidase deficiency, BTD gene, Newborn screening, Inherited metabolic disease, Newborn screening programme, NEWBORN, FAMILY
  • Istanbul University Affiliated: Yes

Abstract

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.