Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report
BackgroundAB variant GM2 gangliosidosis is an extremely rare autosomal recessive lysosomal storage disease. Macular cherry-red spots are the most commonly described ocular sign in this disease. Here, for the first time we report a case of an infant with AB variant GM2 gangliosidosis, along with mult...
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Frontiers Media S.A.,
2023-05-01T00:00:00Z.
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