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Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report
BACKGROUND: AB 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 mu...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196110/ https://www.ncbi.nlm.nih.gov/pubmed/37215589 http://dx.doi.org/10.3389/fped.2023.1147836 |