Article ID Journal Published Year Pages File Type
10834067 Molecular Genetics and Metabolism 2010 8 Pages PDF
Abstract
Biotinidase deficiency is a biotin-responsive, inherited neurocutaneous disorder. The disorder is readily treatable and is screened for in the newborn period. Over the years since the discovery of the disorder, many practical questions and issues have been raised as to the diagnosis, management, treatment, and newborn screening of the disorder. In this paper, many of these issues are addressed using evidence-based medicine and anecdotal experiences. If adequate answers are not known, the answers to these queries will require future investigations.
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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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