These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. GM2 gangliosidosis AB variant: first case of late onset and review of the literature. Ganne B; Dauriat B; Richard L; Lamari F; Ghorab K; Magy L; Benkirane M; Perani A; Marquet V; Calvas P; Yardin C; Bourthoumieu S Neurol Sci; 2022 Nov; 43(11):6517-6527. PubMed ID: 35925454 [TBL] [Abstract][Full Text] [Related]
4. GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. Sheth J; Datar C; Mistri M; Bhavsar R; Sheth F; Shah K BMC Pediatr; 2016 Jul; 16():88. PubMed ID: 27402091 [TBL] [Abstract][Full Text] [Related]
5. Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Schepers U; Glombitza G; Lemm T; Hoffmann A; Chabas A; Ozand P; Sandhoff K Am J Hum Genet; 1996 Nov; 59(5):1048-56. PubMed ID: 8900233 [TBL] [Abstract][Full Text] [Related]
6. Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts. Kitakaze K; Tasaki C; Tajima Y; Hirokawa T; Tsuji D; Sakuraba H; Itoh K Biochem Biophys Rep; 2016 Sep; 7():157-163. PubMed ID: 28955902 [TBL] [Abstract][Full Text] [Related]
7. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Salih MA; Seidahmed MZ; El Khashab HY; Hamad MH; Bosley TM; Burn S; Myers A; Landsverk ML; Crotwell PL; Bilguvar K; Mane S; Kruer MC Tremor Other Hyperkinet Mov (N Y); 2015; 5():306. PubMed ID: 26203402 [TBL] [Abstract][Full Text] [Related]
8. GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient. Sakuraba H; Itoh K; Shimmoto M; Utsumi K; Kase R; Hashimoto Y; Ozawa T; Ohwada Y; Imataka G; Eguchi M; Furukawa T; Schepers U; Sandhoff K Neurology; 1999 Jan; 52(2):372-7. PubMed ID: 9932959 [TBL] [Abstract][Full Text] [Related]
9. GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Sanders DN; Zeng R; Wenger DA; Johnson GS; Johnson GC; Decker JE; Katz ML; Platt SR; O'Brien DP Mol Genet Metab; 2013 Jan; 108(1):70-5. PubMed ID: 23266199 [TBL] [Abstract][Full Text] [Related]
10. Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs. Anheuser S; Breiden B; Sandhoff K Mol Genet Metab; 2019; 128(1-2):75-83. PubMed ID: 31097363 [TBL] [Abstract][Full Text] [Related]
11. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses. Charrow J; Binns HJ Clin Chim Acta; 1986 Apr; 156(1):41-9. PubMed ID: 2938852 [TBL] [Abstract][Full Text] [Related]
12. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India. Gowda VK; Gupta P; Bharathi NK; Bhat M; Shivappa SK; Benakappa N J Pediatr Genet; 2022 Mar; 11(1):34-41. PubMed ID: 35186388 [TBL] [Abstract][Full Text] [Related]
13. GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. Renaud D; Brodsky M JIMD Rep; 2016; 25():83-86. PubMed ID: 26082327 [TBL] [Abstract][Full Text] [Related]
14. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. Wang P; Henthorn PS; Galban E; Lin G; Takedai T; Casal M J Vet Intern Med; 2018 Jan; 32(1):340-347. PubMed ID: 29106755 [TBL] [Abstract][Full Text] [Related]
15. Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. Inui K; Grebner EE; Jackson LG; Wenger DA Am J Hum Genet; 1983 Jul; 35(4):551-64. PubMed ID: 6224417 [TBL] [Abstract][Full Text] [Related]
16. Synthesis of novel NBD-GM1 and NBD-GM2 for the transfer activity of GM2-activator protein by a FRET-based assay system. Schwarzmann G; Wendeler M; Sandhoff K Glycobiology; 2005 Dec; 15(12):1302-11. PubMed ID: 16079415 [TBL] [Abstract][Full Text] [Related]