Chamoles, Néstor A.; Blanco, Mariana; Gaggioli, Daniela; Casentini, Carina (2002). „Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards”. Clinica Chimica Acta. 318 (1–2): 133—137. PMID11880123. doi:10.1016/S0009-8981(02)00002-5..
Zhang, Z.-X.; Wakamatsu, N.; Mules, E. H.; Thomas, G. H.; Gravel, R. A. (1994). „Impact of premature stop codons on mRNA levels in infantile Sandhoff disease”. Human Molecular Genetics. 3 (1): 139—145. PMID8162015. doi:10.1093/hmg/3.1.139..
Hendriksz, C. J.; Corry, P. C.; Wraith, J. E.; Besley, G. T. N.; Cooper, A.; Ferrie, C. D. (2004). „Juvenile Sandhoff disease—Nine new cases and a review of the literature”. Journal of Inherited Metabolic Disease. 27 (2): 241—249. PMID15159655. S2CID41447979. doi:10.1023/B:BOLI.0000028777.38551.5a.
Chamoles, Néstor A.; Blanco, Mariana; Gaggioli, Daniela; Casentini, Carina (2002). „Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards”. Clinica Chimica Acta. 318 (1–2): 133—137. PMID11880123. doi:10.1016/S0009-8981(02)00002-5..
Zhang, Z.-X.; Wakamatsu, N.; Mules, E. H.; Thomas, G. H.; Gravel, R. A. (1994). „Impact of premature stop codons on mRNA levels in infantile Sandhoff disease”. Human Molecular Genetics. 3 (1): 139—145. PMID8162015. doi:10.1093/hmg/3.1.139..
Hendriksz, C. J.; Corry, P. C.; Wraith, J. E.; Besley, G. T. N.; Cooper, A.; Ferrie, C. D. (2004). „Juvenile Sandhoff disease—Nine new cases and a review of the literature”. Journal of Inherited Metabolic Disease. 27 (2): 241—249. PMID15159655. S2CID41447979. doi:10.1023/B:BOLI.0000028777.38551.5a.
Hendriksz, C. J.; Corry, P. C.; Wraith, J. E.; Besley, G. T. N.; Cooper, A.; Ferrie, C. D. (2004). „Juvenile Sandhoff disease—Nine new cases and a review of the literature”. Journal of Inherited Metabolic Disease. 27 (2): 241—249. PMID15159655. S2CID41447979. doi:10.1023/B:BOLI.0000028777.38551.5a.