GM2A

Publications

Ganne et al. GM2 gangliosidosis AB variant: first case of late onset and review of the literature. Neurol Sci. 2022;43(11):6517-6527. DOI: 10.1007/s10072-022-06270-x. Epub 2022 Aug 4. PMID: 35925454.

─░nci et al. Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. J Pediatr Endocrinol Metab. 2021;34(6):805-812. DOI: 10.1515/jpem-2020-0655. PMID: 33819415.

Kochumon et al. GM2 activator protein deficiency, mimic of Tay-Sachs disease. Int J Epilepsy, 2017;4(2):184-187, ISSN 2213-6320. DOI: https://doi.org/10.1016/j.ijep.2017.08.001.

Martins et al. Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene. Mol Genet Metab Rep. 20177;11:24-29. DOI: 10.1016/j.ymgmr.2017.01.017. PMID: 28417072.

Sheth et al. GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. BMC Pediatr. 2016;16:88. DOI: 10.1186/s12887-016-0626-6. PMID: 27402091.