JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.3, pp.339-343, 2018 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
biotinidase, novel mutation, partial, profound, NEWBORN, FEATURES, CHILDREN, FAMILY, GENE
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.