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: | Book |
| Published: |
Union of pediatricians of Russia,
2021-01-01T00:00:00Z.
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