科研之友
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摘要
Mitochondrial disorders ( mitochondriopathies) are one of the most commonly occurring neurometabolic disorders in children. In recent years biochemical, i.e. functional analyses, and advances in genetic methods (i.e. new sequencing techniques) have led to the discovery of numerous new diseases. Because of the heterogeneous clinical pictures and the complexity of the diagnostic workup a close collaboration of competence centers and a networking between them is required. New promising therapeutic approaches need to be verified in prospective multicenter studies.
- 出版日期2011-9
