Article
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 May 2016
Liu Y P, Li X Y, Ding Y, Wang Q, Song J Q, Zhang Y, Li D X, Qin Y P, Yang Y L
Abstract excerpt
OBJECTIVE: To study the clinical and genetic features of the patients with secondary methylmalonic aciduria due to succinate-CoA ligase deficiency. METHOD: From February 2011 to April 2014, 4 Chinese patients with succinate-CoA ligase deficiency and mild methylmalonic aciduria were enrolled in this study. The clinical course, biochemical features, brain MRI findings, and mutations were analyzed. RESULT: Four...
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