Cargando…
Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy
BACKGROUND: Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2‐ganglioside in lysosomes, decreased levels of HEXAcauses an accumulation of the protein and le...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222837/ https://www.ncbi.nlm.nih.gov/pubmed/33811753 http://dx.doi.org/10.1002/mgg3.1677 |