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Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches
Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane. Undegraded heparan sulfate molecules accumulate within lysosomes leading to cel...
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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7659972/ https://ncbi.nlm.nih.gov/pubmed/33105639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21217819 |
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