Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation
We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. His neurologic symptoms...
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2006
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| Online Access: | http://hdl.handle.net/10725/11108 https://doi.org/10.1177/08830738060210110301 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://journals.sagepub.com/doi/abs/10.1177/08830738060210110301 |
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