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Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease
Sandhoff disease (SD) results from mutations in the HEXB gene, subsequent deficiency of N-acetyl-β-hexosaminidase (Hex) and accumulation of GM2 gangliosides. SD leads to progressive neurodegeneration and early death. However, there is a lack of established SD biomarkers, while the pathogenesis etiol...
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| Foilsithe in: | Mol Genet Metab |
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| Main Authors: | , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
2018
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6365207/ https://ncbi.nlm.nih.gov/pubmed/30236619 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.09.005 |
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