Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Eva Wibbeler,Raymond Y. Wang,Emily de los Reyes,Nicola Specchio,Paul Gissen,Norberto Guelbert,Miriam Nickel,Christoph Schwering,Lenora Lehwald,Marina Trivisano,Laura Lee,Gianni Amato,Jessica Cohen-Pfeffer,Renée Shediac,Fernanda Leal-Pardinas,Angela Schulz

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

2020

Eva Wibbeler
Raymond Y. Wang
Emily de los Reyes
Nicola Specchio
Paul Gissen
Norberto Guelbert
Miriam Nickel
Christoph Schwering
Lenora Lehwald
Marina Trivisano
Laura Lee
Gianni Amato
Jessica Cohen-Pfeffer
Renée Shediac
Fernanda Leal-Pardinas
Angela Schulz

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, langua...

Keywords:

clinical course
Disease
Late infantile neuronal ceroid lipofuscinosis
Cerliponase alfa
Epilepsy
Phenotype
Pathology
Neuronal Ceroid Lipofuscinosis Type 2
Medicine
Natural history

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