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Retricted access

Research article

First published 2016-11

Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2

Dara V. Albert, Han Yin, Emily C. De Los Reyes [...]

Journal of Child Neurology

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Research article

First published 2022-12

Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease

Mai-Lan Ho, Elaine C. Wirrell, Kalliopi Petropoulou [...]

Journal of Child Neurology

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Review article

First published 2020-4

Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2

Grace Lewis, Amanda M. Morrill, Stephanie L. Conway-Allen [...]

Journal of Child Neurology

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Review article

First published 2026-3

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

Juliana Almeida Oliveira, Muhammad Nabeel Saddique, Maria Qadri [...]

Journal of Child Neurology

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Case report

First published 2025-1

Clinical,Pathological,and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease

Celso Tomás Corcuera-Delgado, Alfonso Gilberto Ramírez-Ristori, Estela Pérez-Muñoz [...]

Pediatric and Developmental Pathology

Open access

Research article

First published 2021-5

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

Eva Wibbeler, Raymond Wang, Emily de los Reyes [...]

Journal of Child Neurology

Open access

Research article

First published 2018

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Kathleen W. Wyrwich, Angela Schulz, Miriam Nickel [...]

Journal of Inborn Errors of Metabolism and Screening

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Other

First published 2007-5

Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2/Jansky-Bielschowsky Type) in Oman

Roshan Koul, Amna Al-Futaisi, Anuradha Ganesh [...]

Journal of Child Neurology

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Review article

First published 1989-07

Review Article: The Neuronal Ceroid Lipofuscinoses

Paul Richard Dyken

Journal of Child Neurology

Free access

Research article

First published 2006-9

Detection of Tripeptidyl Peptidase I Activity in Living Cells by Fluorogenic Substrates

Robert Steinfeld, Jens C. Fuhrmann, Jutta Gärtner

Journal of Histochemistry & Cytochemistry

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