The clinical and genetical heterogeneity of riboflavin ⁃ responsive multiple acyl ⁃ coenzyme A dehydrogenase deficiency

Objective To explore the diversity of clinical manifestations and gene mutations of riboflavin⁃responsive multiple acyl⁃coenzyme A dehydrogenase deficiency (MADD). Methods and Results The clinical, blood biochemical, EMG, muscle biopsy and genetic analysis results of 5 patients with riboflavin⁃respo...

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Bibliographic Details
Main Authors: Yi-ming SUN, Ji-qing CAO, Jing LI, Huan LI, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2020-06-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/2154