The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at...
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| Format: | Article |
| Language: | English |
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MDPI AG
2016-10-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | http://www.mdpi.com/2409-515X/2/4/9 |