Authors | Title | Published | Journal | PubMed Link |
---|---|---|---|---|
Martin DR et al. | Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. | 2005 | Acta Neuropathol. | pmid:16200419 |
Gieselmann V | What can cell biology tell us about heterogeneity in lysosomal storage diseases? | 2005 | Acta Paediatr Suppl | pmid:15895717 |
Kroll RA et al. | White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. | AJNR Am J Neuroradiol | pmid:7677013 | |
Raghavan SS et al. | GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures. | 1985 | Am. J. Hum. Genet. | pmid:2934978 |
Conzelmann E et al. | Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level. | 1983 | Am. J. Hum. Genet. | pmid:6614006 |
Inui K et al. | Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. | 1983 | Am. J. Hum. Genet. | pmid:6224417 |
Li YT et al. | Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates. | 1983 | Am. J. Hum. Genet. | pmid:6222647 |
Johnson WG et al. | Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies. | 1980 | Am. J. Hum. Genet. | pmid:6772023 |
O'Brien JS and Geiger B | Normal adult with absent HEX A: immunoreactive HEX A is present. | 1979 | Am. J. Hum. Genet. | pmid:507054 |
O'Brien JS et al. | Characterization of unusual hexosaminidase A (HEX A) deficient human mutants. | 1978 | Am. J. Hum. Genet. | pmid:747188 |