A novel mutation in Sanfilippo Syndrome type B. Case report
Introduction: Sanfilippo syndrome type B is an autosomal recessive lysosomal storage disease. The frequent clinical manifestations include slightly coarse facial features, progressive neurodegeneration and mild somatic repercussion caused by mutations in the NAGLU gene, whose locus is 17q21.2. The...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Universidad de Ciencias Médicas de La Habana
2021-04-01
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| Series: | Revista Habanera de Ciencias Médicas |
| Subjects: | |
| Online Access: | http://www.revhabanera.sld.cu/index.php/rhab/article/view/3465 |