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...

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Detalles Bibliográficos
Autores principales: Park, Ji Hong, Ko, Jung Min, Kim, Min Sun, Kim, Man Jin, Seong, Moon‐Woo, Yoo, Taekyeong, Lim, Byung Chan, Chae, Jong‐Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
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

Internet

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

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