Associated Papers
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Fitterer B et al.
Molecular Genetics and Metabolism, 2014
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Banerjee P et al.
The Journal of Biological Chemistry, 1994
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