GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice
Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell death. The major clinical signs of this disease are r...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2021-01-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/1924 |
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