Results 61 to 70 of about 69,398 (132)

Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 1; peer review: 1 approved with reservations] [PDF]

, 2021
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA.
Lee, Laura, Lee, L, Zetterberg, H, Iwan, Katharina, Zetterberg, Henrik, Heywood, WE, Borisova, M, Mole, Sara E, Heywood, Wendy E, Heslegrave, A, Heslegrave, Amanda, Mills, Kevin, Patel, Nina, Mills, Philippa B, Bower, R, Gissen, P, Bower, Rebecca, Gissen, Paul, Borisova, Mina, Mills, PB, Mills, K, Mole, SE, Iwan, K, Patel, N   +23 more
core  

Neuronal ceroid lipofuscinoses type 2 and the role of nursing in the multidisciplinary approach [PDF]

, 2022
Trabajo fin de grado en EnfermeríaIntroducción: En el último siglo, las enfermedades raras han pasado de ser un tema desatendido y aislado a cobrar importancia e interés por la mayor parte de la Comunidad Europea.
López Feito, Silvia
core  

Rana dijagnoza neuronske* ceroidne lipofuscinoze tip 2 - mit ili stvarnost?

, 2020
Neuronal ceroid lipofuscinosis type 2 (CLN2) is the most common childhood progressive neurodegenerative disease. The main features of CLN2 disease are language delay that precedes epileptic seizures, motor disorders, progressive deterioration of vision ...
Igor Prpić, Prpić, Igor
core   +2 more sources

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Diagnosis and treatment response in children with neuronal ceroid lipofuscinosis type 2 at the Clinical Hospital Center Rijeka

Uvod: Neuronska ceroidna lipofuscinoza tip 2 (CLN2) predstavlja rijedak autosomno recesivan, neurodegenerativni poremećaj uzrokovan mutacijom u CLN2 genu, što rezultira nedostatkom aktivnosti TPP1 enzima.
Kostanjski, Marija
core   +2 more sources

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism. [PDF]

Clin Transl Sci, 2023
Hon YY, Wang J, Abodakpi H, Balakrishnan A, Pacanowski M, Chakder S, Smpokou P, Donohue K, Wang YC.   +8 more
europepmc   +1 more source

Intraventricular Cerliponase Alfa as Standard of Care in CLN2 Disease: 4-Year Update from an Independent Ongoing Observational Study

, 2021
S. Dulz, L. Westermann, E. Wibbeler, C. Schwering, A. Schulz, M. Nickel, S. Lezius, E. Maier   +7 more
core   +1 more source

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2. [PDF]

Brain Sci, 2023
Sivananthan S, Lee L, Anderson G, Csanyi B, Williams R, Gissen P.   +5 more
europepmc   +1 more source

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2. [PDF]

Neuropediatrics
Priglinger CS, Courage C, Lotz-Havla AS, Gerhardt M, Ehrt O, Kurz M, Pudritz H, Rudolph G, Jackson CB, Maier EM.   +9 more
europepmc   +1 more source