کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10834067 1065856 2010 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical issues and frequent questions about biotinidase deficiency
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Clinical issues and frequent questions about biotinidase deficiency
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 100, Issue 1, May 2010, Pages 6-13
نویسندگان
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