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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Tianjin Huanhu Hospital
2020-06-01
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Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
Subjects: | |
Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/2154 |