| Literature DB >> 19179722 |
Narendra Rathi1, Manisha Rathi.
Abstract
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.Entities:
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Year: 2009 PMID： 19179722
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411