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The diagnostic journey for patients with late-onset GM2 Gangliosidoses

Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ganglioside primarily within neurons, leading to cell...

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Detalles Bibliográficos
Autores principales:	Lopshire, Mariah C., Tifft, Cynthia, Burns, John, Gould, Rebecca, Zheng, Riliang, Batsu, Isabela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694732/ http://dx.doi.org/10.1016/j.ymgmr.2023.101014

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