“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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426921000124 |