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GM1gangliosidosis: Clinical and radiological clue to diagnosis
GM1gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of enzyme β-galactosidase, resulting in progressive neural and visceral accumulation of GM1gangliosides. Coarse facial features, bilateral cherry red spots, and dysostosis multiplex are important clue to...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Medknow Publications & Media Pvt Ltd
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3611903/ https://ncbi.nlm.nih.gov/pubmed/23560001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.106472 |
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