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Key Publications

A curated collection of scientific and clinical publications focussed on CLN2 and other forms of neuronal ceroid lipofuscinoses (NCLs). Reproduction of content owned by BioMarin on this page is authorised for non-commercial purposes. You may be required to clear additional rights if specific content depicts identifiable private individuals or includes third-party works. To use or reproduce content that is not owned by BioMarin (including but not limited to content compiled by BioMarin subject to a license from the original copyright holder), you may need to seek permission directly from the right-holders. Software or documents covered by industrial property rights, such as patents, trademarks, registered designs, logos, and names, are excluded from BioMarin’s reuse policy and are not licensed to you. 

On Demand

CLN2 Masterclass 2024: Dr Ksenija Fumić, University of Zagreb, Croatia

Navigating CLN2 diagnosis – the importance of testing: Dr Fumić discusses how to achieve an early diagnosis, with tips and advice on key diagnostic tests, CLN2 disease biomarkers and the future of newborn screening.

CLN2 Masterclass 2024 is a promotional BOME, speakers paid honorarium, deriving from clinical experience, individual cases may wary and consent in place.

On Demand

CLN2 Masterclass 2024: Dr Igor PrpiC, University of Rijeka, Croatia

How to raise suspicion of CLN2: Dr Prpić uses a patient case study to illustrate the hallmark symptoms of CLN2 disease, and discusses diagnostic testing, differential diagnoses and strategies to achieve an early diagnosis.

CLN2 Masterclass 2024 is a promotional BOME, speakers paid honorarium, deriving from clinical experience, individual cases may wary and consent in place.

On Demand

CLN2 Masterclass 2024: Dr Dipak Ram, Royal Manchester Children’s Hospital, United Kingdom

Navigating CLN2 diagnosis: Dr Ram shares insights from his UK hospital on managing the complexities of CLN2 disease, communicating the diagnosis, providing structured support for patients and family, and the vital role of the multidisciplinary team.

CLN2 Masterclass 2024 is a promotional BOME, speakers paid honorarium, deriving from clinical experience, individual cases may wary and consent in place.

On Demand

CLN2 Masterclass 2024: Dr Martin Magner, Charles University & General University Hospital, Prague, Czechia

Clinical manifestations of CLN2 disease: Dr Magner discusses what we know about CLN2 disease so far, including the natural history and key clinical assessments.

CLN2 Masterclass 2024 is a promotional BOME, speakers paid honorarium, deriving from clinical experience, individual cases may wary and consent in place.

On Demand

CLN2 Masterclass 2024: Dr Argirios Dinopoulos, Attikon General University Hospital, Greece

Atypical manifestations of CLN2 disease: Dr Dinopoulos provides an overview of atypical CLN2 disease, featuring patient case studies and a diagnostic protocol to facilitate early recognition.

CLN2 Masterclass 2024 is a promotional BOME, speakers paid honorarium, deriving from clinical experience, individual cases may wary and consent in place.

On Demand

CLN2 Masterclass 2024: Prof Angela Schulz, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Atypical manifestations of CLN2 disease: Prof Schulz shares patient case studies which highlight signs and symptoms of atypical CLN2 disease.

CLN2 Masterclass 2024 is a promotional BOME, speakers paid honorarium, deriving from clinical experience, individual cases may wary and consent in place.

Infographic

SUMMARY INFOGRAPHIC OF CLN2 GUIDELINES

Download a summary of the evidence and consensus-driven guidelines from an international panel of experts, that provides key insights and best practices in the management of CLN2 disease.

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