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33819415 | Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. | 2021 Jun 25 |
1 |
| 2 |
31097363 | Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs. | 2019 Sep - Oct |
3 |
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29618308 | Genetics and Therapies for GM2 Gangliosidosis. | 2018 |
1 |
| 4 |
27018595 | Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. | 2016 May 2 |
1 |
| 5 |
28955902 | Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts. | 2016 Sep |
2 |
| 6 |
24769373 | Liquid chromatography/electrospray ionisation-tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasma. | 2014 Aug 1 |
1 |
| 7 |
25271840 | Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses. | 2014 Oct 1 |
1 |
| 8 |
20695991 | GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. | 2010 Sep-Oct |
3 |
| 9 |
20821051 | Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. | 2010 Dec |
1 |
| 10 |
18772556 | Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. | 2008 Aug |
3 |
| 11 |
17196574 | Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies. | 2007 Mar |
1 |
| 12 |
17894780 | Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells. | 2007 Oct |
1 |
| 13 |
12760286 | Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant. | 2003 May |
6 |
| 14 |
11278374 | Degradation of membrane-bound ganglioside GM2 by beta -hexosaminidase A. Stimulation by GM2 activator protein and lysosomal lipids. | 2001 Apr 20 |
3 |
| 15 |
11090283 | Crystal structure of human GM2-activator protein with a novel beta-cup topology. | 2000 Dec 1 |
1 |
| 16 |
9572057 | Biology and potential strategies for the treatment of GM2 gangliosidoses. | 1998 Apr |
2 |
| 17 |
8663217 | Identification of domains in human beta-hexosaminidase that determine substrate specificity. | 1996 Jul 19 |
1 |
| 18 |
1967020 | Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system. | 1990 Nov |
1 |
| 19 |
2522660 | Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. | 1989 Apr |
2 |
| 20 |
3935131 | Molecular forms of GM2-activator protein. A study on its biosynthesis in human skin fibroblasts. | 1985 Sep |
1 |
| 21 |
6225718 | Activating proteins for ganglioside GM2 degradation by beta-hexosaminidase isoenzymes in tissue extracts from different species. | 1983 Jul |
1 |
| 22 |
6227586 | Beta-hexosaminidase isozymes and replacement therapy in Gm2 gangliosidosis. | 1983 |
1 |
| 23 |
404100 | N-Acetyl-beta-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses. | 1977 May 2 |
1 |
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814123 | An activator stimulating the enzymic hydrolysis of sphingoglycolipids. | 1976 Feb 25 |
1 |