Atıf İçin Kopyala
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)
-
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
-
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.