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Sphingolipid Metabolism Perturbations in Rett Syndrome
Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2. The pathogenetic mechanisms of Rett syndrome are not completely understood and metabolic derangements are emergi...
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| 出版年: | Metabolites |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6835521/ https://ncbi.nlm.nih.gov/pubmed/31658741 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/metabo9100221 |
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