Evaluation of newborn screening for biotinidase deficiency from southeastern region of Türkiye
Objective: Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder. Biotin plays an important role as a cofactor of carboxylases. BD is categorized into two groups as profound and partial deficiency based on serum quantitative biotinidase enzyme activity (BA). Clinical ma...
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| Hovedforfatter: | |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Aydın Pediatric Society
2023-12-01
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| Serier: | Trends in Pediatrics |
| Fag: | |
| Online adgang: | https://trendspediatrics.com/article/view/109 |
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