Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey

Yilmaz B. S., Mungan N. O., Kor D., Bulut D., Seydaoglu G., ÖKTEM M., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.31, sa.3, ss.339-343, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2017-0406
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.339-343
  • Anahtar Kelimeler: biotinidase, novel mutation, partial, profound, NEWBORN, FEATURES, CHILDREN, FAMILY, GENE
  • Çukurova Üniversitesi Adresli: Evet

Özet

Background: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008.