Neuropsychometric outcome predictors for adults with maple syrup urine disease.
作者信息
le Roux C, Murphy E, Hallam P, Lilburn M, Orlowska D, Lee P
机构信息
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
出版信息
J Inherit Metab Dis. 2006 Feb;29(1):201-2. doi: 10.1007/s10545-006-0223-1.
PMID:16601892
Abstract
We describe 14 adult MSUD patients (3 with intermediate MSUD) with varied clinical and neuropsychometric outcomes. Age at diagnosis appears to be a predictor of IQ even in adults, while long-term blood leucine does not correlate with IQ.
摘要
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