Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical features. Aims: To eval...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2022-09-01
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| Series: | Balkan Medical Journal |
| Online Access: | http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422 |