Late onset type of propionic acidaemia: case report and biochemical studies.
作者信息
Merinero B, DelValle J A, Jiménez A, Garcia M J, Ugarte M, Solaguren R, López O, Condado I
出版信息
J Inherit Metab Dis. 1981;4(2):71-2. doi: 10.1007/BF02263596.
PMID:6790853
Abstract
A late-onset case of propionic acidaemia with favourable response to restriction of dietary protein is described. During a keto-acidotic crisis, this patient demonstrated unexpectedly low concentrations of propionic acid and glycine in blood and urine but increased urinary output of some secondary metabolites.
摘要
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