Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
作者信息
Pinto L, Zen P, Rosa R, Paskulin G, Perla A, Barea L, Baumgartner M R, Dantas M F, Fowler B, Giugliani R, Vargas C, Wajner M, Graziadio C
机构信息
Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil.
出版信息
J Inherit Metab Dis. 2006 Feb;29(1):205-6. doi: 10.1007/s10545-006-0188-0.
PMID:16601894
Abstract
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.
摘要
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