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Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis

GM2 gangliosidosis is a group of genetic disorders that result in the accumulation of GM2 ganglioside (GM2) in brain cells, leading to progressive central nervous system (CNS) atrophy and premature death in patients. AB-variant GM2 gangliosidosis (ABGM2) arises from loss-of-function mutations in the...

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Detalles Bibliográficos
Autores principales:	Deschenes, Natalie M., Cheng, Camilyn, Ryckman, Alex E., Quinville, Brianna M., Khanal, Prem, Mitchell, Melissa, Chen, Zhilin, Sangrar, Waheed, Gray, Steven J., Walia, Jagdeep S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253223/ https://www.ncbi.nlm.nih.gov/pubmed/37298170 http://dx.doi.org/10.3390/ijms24119217

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