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GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A. Less than ten patients, confirmed by molecular analysis, have been described in the literature. A 12-month-old Hmong girl pres...
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| Izdano u: | JIMD Rep |
|---|---|
| Glavni autori: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer Berlin Heidelberg
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5059184/ https://ncbi.nlm.nih.gov/pubmed/26082327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_469 |
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