Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.

Autor: Pinto, L., Zen, P., Rosa, R., Paskulin, G., Perla, A., Barea, L., Baumgartner, M., Dantas, M., Fowler, B., Giugliani, R., Vargas, C., Wajner, M., Graziadio, C.
Zdroj: Journal of Inherited Metabolic Disease; Feb2006, Vol. 29 Issue 1, p205-206, 2p
Abstrakt: We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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