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Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

✍ Scribed by Wang, Qiao; Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Song, Jinqing; Yang, Yanling


Book ID
121509009
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
291 KB
Volume
36
Category
Article
ISSN
0387-7604

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## Abstract Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1‐associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16