Biotinidase deficiency with hypertonia as unusual feature.
نویسندگان
چکیده
We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 46 1 شماره
صفحات -
تاریخ انتشار 2009