Results 111 to 120 of about 69,398 (132)

Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

British Journal of Ophthalmology, 2022
Background/aims Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise the progression of CLN2-associated retinal degeneration in ...
S. Dulz, C. Schwering, Jan Wildner, Christoph Spartalis, F. Schuettauf, U. Bartsch, E. Wibbeler, M. Nickel, M. Spitzer, Y. Atiskova, A. Schulz   +10 more
semanticscholar   +1 more source

Cerliponase alfa-related AEs reported in EudraVigilance

Reactions Weekly
openaire   +2 more sources

Serial brain MRI volumetrics and tractography of atypical CLN2 patients receiving ICV cerliponase alfa treatment

Molecular Genetics and Metabolism
Audrey Kao, Harriet Chang, Igor Nestrasil, Raymond Y. Wang   +3 more
openaire   +2 more sources

Cerliponase alfa and neuronal ceroid lipofuscinosis type 2: long-term outcomes and lessons for future research

The Lancet Neurology
Rose-Mary Boustany
openaire   +3 more sources

Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age

Molecular Genetics and Metabolism
Angela Schulz, Emily C. de los Reyes, Nicola Specchio, Paul Gissen, Peter Slasor, Shailesh Bondade, Jessica L. Cohen Pfeffer   +6 more
openaire   +2 more sources

Treatment of Neuronal Ceroid Lipofuscinosis Type 2 with Cerliponase Alfa: A Systematic Review and Single-Arm Meta-Analysis of Two Studies

Journal of Child Neurology
Background: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disorder caused by CLN2 gene mutations, leading to ceroid lipofuscin accumulation and progressive neurodegeneration.
Juliana Almeida Oliveira, M. Saddique, Maria Qadri, Fatima Shahid, Ana Clara Fonseca Souza de Jesus, Filipe P. Sarmento   +5 more
semanticscholar   +1 more source

A long-term observation of ophthalmology assessment in atypical CLN2 patients receiving ICV cerliponase alfa treatment

Molecular Genetics and Metabolism
Audrey Kao, Harriet Chang, Rahul Bhola, Raymond Y. Wang   +3 more
openaire   +2 more sources

Brainstem auditory evoked potentials (BAEP) in CLN2 patients under treatment with cerliponase alfa

Molecular Genetics and Metabolism
Christoph Schwering, Angela Schulz, Christian Posern   +2 more
openaire   +2 more sources

Cerliponase-alfa

Reactions Weekly, 2021
openaire   +2 more sources

Presymptomatic and symptomatic disease stage-dependent outcomes of cerliponase alfa treatment in siblings with CLN2 disease

Molecular Genetics and Metabolism
Lena Marie Westermann, Lara Y. Ruhberg, Susanne Lezius, Luca Hagenah, Eva Heemann, Miriam Nickel, Christoph Schwering, Christian Posern, Angela Schulz   +8 more
openaire   +2 more sources