Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

BACKGROUND: The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively. A minority of patients have a late-onset form of disease...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Lyn, Nicole, Pulikottil-Jacob, Ruth, Rochmann, Camille, Krupnick, Robert, Gwaltney, Chad, Stephens, Nick, Kissell, Julie, Cox, Gerald F., Fischer, Tanya, Hamed, Alaa
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7160997/
https://ncbi.nlm.nih.gov/pubmed/32295606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01354-3
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