JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.3, pp.339-343, 2018 (SCI-Expanded)
Article / Article
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Science Citation Index Expanded (SCI-EXPANDED), Scopus
biotinidase, novel mutation, partial, profound, NEWBORN, FEATURES, CHILDREN, FAMILY, GENE
Gazi University Affiliated:
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.