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The Second Case of Saposin A Deficiency and Altered Autophagy
Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer...
Tallennettuna:
| Julkaisussa: | JIMD Rep |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer Berlin Heidelberg
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323030/ https://ncbi.nlm.nih.gov/pubmed/29995202 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_114 |
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