GM1 gangliosidosis (Q90733): Difference between revisions
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A gangliosidose GM1 é uma doença rara de depósito lisossomal caracterizada bioquimicamente pela atividade deficiente da beta-galactosidase e clinicamente por uma ampla gama de características neuroviscerais, oftalmológicas e dismórficas. | |||
| description / en | description / en | ||
GM1 gangliosidosis is a rare lysosomal storage disorder characterised biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. | |||
Revision as of 17:43, 15 August 2026
GM1 gangliosidosis is a rare lysosomal storage disorder characterised biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_401105928 |
||
| English | GM1 gangliosidosis |
GM1 gangliosidosis is a rare lysosomal storage disorder characterised biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. |
