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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...
Gorde:
| Argitaratua izan da: | Mol Genet Metab Rep |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Elsevier
2021
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7873677/ https://ncbi.nlm.nih.gov/pubmed/33604240 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100718 |
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