Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
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DOI: 10.1016/j.pediatrneurol.2020.04.018
Abstract: BACKGROUND Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; disease; ceroid lipofuscinosis ... See more keywords
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
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DOI: 10.1177/0883073820977997
Abstract: Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline.… read more here.
Keywords: treatment; atypical phenotypes; language; cerliponase alfa ... See more keywords