Research view
| Title: | Novel Mutation Causing Partial Biotinidase Deficiency in a Syrian Boy with Infantile Spasms and Retardation. |
| Author: | Mikati, Mohamad A.; Zalloua, Pierre; Karam, Pascale; Habbal, Mohamad-Zuheir; Rahi, Amal C. |
| Abstract: |
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 alo
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| Journal: | Journal of Child Neurology. 2006 Nov Vol 21(11) 978-981 |