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Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies
Expert Review of Neurotherapeutics, 21 (2021), 11; 1275-1282. https://doi.org/10.1080/14737175.2021.1885374
Mazurkiewicz-Bełdzińska, Maria; del Toro, Mireia; Haliloğlu, Göknur; Huidekoper, Hidde H.; Kravljanac, Ružica; Mühlhausen, Chris; Andersen, Brian Nauheimer; Prpić, Igor; Striano, Pasquale; Auvin, Stéphane

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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Mazurkiewicz Bełdzińska, M., del Toro, M., Haliloğlu, G., Huidekoper, H. H., Kravljanac, R., Mühlhausen, C. ... Auvin, S. (2021). Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies. Expert Review of Neurotherapeutics, 21. (11), 1275-1282. doi: 10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska, Maria, et al. "Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies." Expert Review of Neurotherapeutics, vol. 21, br. 11, 2021, str. 1275-1282. https://doi.org/10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska, Maria, Mireia del Toro, Göknur Haliloğlu, Hidde H. Huidekoper, Ružica Kravljanac, Chris Mühlhausen, Brian Nauheimer Andersen, Igor Prpić, Pasquale Striano i Stéphane Auvin. "Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies." Expert Review of Neurotherapeutics 21, br. 11 (2021): 1275-1282. https://doi.org/10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska, M., et al. (2021) 'Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies', Expert Review of Neurotherapeutics, 21(11), str. 1275-1282. doi: 10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska M, del Toro M, Haliloğlu G, Huidekoper HH, Kravljanac R, Mühlhausen C, i sur.. Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies. Expert Review of Neurotherapeutics [Internet]. 2021. [pristupljeno 26.11.2024.];21(11):1275-1282. doi: 10.1080/14737175.2021.1885374

M. Mazurkiewicz Bełdzińska, et al., "Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies", Expert Review of Neurotherapeutics, vol. 21, br. 11, str. 1275-1282, 2021. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:506279. [Citirano: 26.11.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:506279
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Naslov (engleski)Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies
AutorMaria Mazurkiewicz-Bełdzińska
AutorMireia del Toro
AutorGöknur Haliloğlu
AutorHidde H. Huidekoper
AutorRužica Kravljanac
AutorChris Mühlhausen
AutorBrian Nauheimer Andersen
AutorIgor Prpić
AutorPasquale Striano
AutorStéphane Auvin
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za pedijatriju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems. Diagnosis of CLN2 disease is challenging (particularly when differentiating between early- onset developmental, metabolic, or epileptic syndromes), and diagnostic delays often overlap with rapid disease progression. An enzyme replacement therapy (cerliponase alfa) is now available, adding CLN2 disease to the list of potentially treatable disorders requiring a prompt diagnosis. Areas covered: Although advances in enzymatic activity testing and genetic testing have facilitated diagnoses of CLN2 disease, our review highlights the presenting symptoms that are vital in directing clinicians to perform appropriate tests or seek expert opinion. We also describe common diagnostic challenges and some potential misdiagnoses that may occur during differential diagnosis. Expert opinion: An awareness of CLN2 disease as a potentially treatable disorder and increased understanding of the key presenting symptoms can support selection of appropriate tests and prompt diagnosis. The available enzyme replacement therapy heralds an even greater imperative for early diagnosis, and for clinicians to direct patients to appropriate diagnostic pathways.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Pregledni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaExpert Review of Neurotherapeutics
Brojčani podacivol. 21, br. 11, str. 1275-1282
p-ISSN1473-7175
DOIhttps://doi.org/10.1080/14737175.2021.1885374
URN:NBNurn:nbn:hr:184:506279
Datum objave publikacije2021
URL dokumentahttp://bib.irb.hr/1252261
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2023-02-09 08:09:16