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Clinical issues and frequent questions about biotinidase deficiency

Molecular Genetics and Metabolism, ISSN: 1096-7192, Vol: 100, Issue: 1, Page: 6-13
2010
  • 117
    Citations
  • 0
    Usage
  • 111
    Captures
  • 0
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    117
    • Citation Indexes
      114
    • Clinical Citations
      2
      • 2
    • Policy Citations
      1
      • 1
  • Captures
    111

Review Description

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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