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Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations
Multiple Mitochondrial Dysfunction Syndrome (MMDS) comprises a group of severe autosomal recessive diseases with onset in early infancy and characterized by a systemic disorder of energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, lactic acidosis, and ea...
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| 發表在: | Front Genet |
|---|---|
| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Frontiers Media S.A.
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4238403/ https://ncbi.nlm.nih.gov/pubmed/25477904 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00412 |
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