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Unusual case of Juvenile Tay-Sachs disease
Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6747916/ https://ncbi.nlm.nih.gov/pubmed/31519716 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-230140 |
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