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“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”
INTRODUCTION: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This ar...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873677/ https://www.ncbi.nlm.nih.gov/pubmed/33604240 http://dx.doi.org/10.1016/j.ymgmr.2021.100718 |