Copy For Citation
Yilmaz B. S., Mungan N. O., Kor D., Bulut D., Seydaoglu G., ÖKTEM M., ...More
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.3, pp.339-343, 2018 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
31
Issue:
3
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Publication Date:
2018
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Doi Number:
10.1515/jpem-2017-0406
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Journal Name:
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Page Numbers:
pp.339-343
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Keywords:
biotinidase, novel mutation, partial, profound, NEWBORN, FEATURES, CHILDREN, FAMILY, GENE
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Çukurova University Affiliated:
Yes
Abstract
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.