“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...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Espitia Segura, O.M., Hernández, Z., Mancilla, N.I., Naranjo, R.A., Tavera, L.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2021
Fag:
Research Paper
Online adgang: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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