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Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003. Epub 2010 Jan 11.

Clinical issues and frequent questions about biotinidase deficiency.

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1
Department of Medical Genetics, Henry Ford Hospital, 3031 West Grand Blvd., Suite 700, Detroit, MI 48202, USA. bwolf1@hfhs.org

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.

PMID:
20129807
DOI:
10.1016/j.ymgme.2010.01.003
[Indexed for MEDLINE]
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