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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegen...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513107/ https://www.ncbi.nlm.nih.gov/pubmed/28716012 http://dx.doi.org/10.1186/s12881-017-0417-4 |