An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
Neuronal ceroid lipofuscinosis type-2 (CLN2) disease is a rare, autosomal recessive, pediatric-onset, neurodegenerative lysosomal storage disease caused by mutations in the TPP1 gene. Cerliponase alfa (Brineura®), a recombinant form of human tripeptidyl peptidase-1, was recently developed as a treat...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2018-07-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409818788382 |