المؤلفون: Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)

مصطلحات موضوعية: Batten disease, Enzyme replacement therapy, Epilepsy, Language delay, Ataxia, Cerliponase alfa, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000132Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bfTest

المؤلفون: Wibbeler, Eva, Wang, Raymond, de los Reyes, Emily, Specchio, Nicola, Gissen, Paul, Guelbert, Norberto, Nickel, Miriam, Schwering, Christoph, Lehwald, Lenora, Trivisano, Marina, Lee, Laura, Amato, Gianni, Cohen-Pfeffer, Jessica, Shediac, Renée, Leal-Pardinas, Fernanda, Schulz, Angela

المصدر: Journal of Child Neurology. 36(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Genetics, Neurodegenerative, Aging, Orphan Drug, Neurological, Child, Child, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Follow-Up Studies, Humans, Internationality, Male, Neuronal Ceroid-Lipofuscinoses, Recombinant Proteins, Retrospective Studies, Treatment Outcome, neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/66g4w681Test

المؤلفون: Guelbert, Guillermo, Guelbert, Norberto

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2022 10

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, CLN, cerliponase alfa

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100304Test

المؤلفون: Nickel, Miriam, Gissen, Paul, Greenaway, Rebecca, Cappelletti, Simona, Hamborg, Christiane, Ragni, Benedetta, Ribitzki, Tanja, Schulz, Angela, Tondo, Ilaria, Specchio, Nicola

المصدر: Neuropediatrics (2023) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Pediatrics, Neurosciences & Neurology, CLN2 disease, neuronal ceroid lipofuscinosis, language development, enzyme replacement therapy, cerliponase alfa

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173923/1/s-0043-1770143.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173923Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173923/1/s-0043-1770143.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173923Test/

المؤلفون: Amanda Mortensen, Eva M. Raebel, Samantha Wiseman

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis type 2 (CLN2), COVID-19, Cerliponase alfa, Managed access agreement, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/1ac32db670a249a1b402ff17c6407d6dTest

المؤلفون: Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: CLN2, Utility values, Vignettes, Cerliponase alfa, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/05ce73df0f3c470db18d58551b88cab3Test

المؤلفون: J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Late-infantile neuronal ceroid lipofuscinosis, CLN2 disease, Tripeptidyl peptidase, Presymptomatic, Cerliponase alfa, Enzyme replacement therapy, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/8c57c49f00064c658440a8768520074cTest

المؤلفون: Guillermo Guelbert, Norberto Guelbert

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, CLN, cerliponase alfa, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100304&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/46ef2ff693e44ea6a21f41fb5fe4094dTest

المؤلفون: Craven, Claudia L, Gissen, Paul, Bower, Rebecca, Lee, Laura, Aquilina, Kristian, Thompson, Dominic NP

المصدر: Journal of Neurosurgery: Pediatrics , 29 (1) pp. 115-121. (2022)

مصطلحات موضوعية: Cerliponase alfa, intracerebroventricular, drug delivery, neurosurgery, neuronal ceroid lipofuscinosis, ventricular access devices, punctures, complications, surgical technique

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10145763/2/Gissen_Battens%20manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10145763Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10145763/2/Gissen_Battens%20manuscript.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10145763Test/

المؤلفون: Specchio N, Pietrafusa N, Trivisano M

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 16, Pp 213-222 (2020)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, tpp1, cerliponase alfa, late infantile, seizures, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/changing-times-for-cln2-disease-the-era-of-enzyme-replacement-therapy-peer-reviewed-article-TCRMTest; https://doaj.org/toc/1178-203XTest

الوصول الحر: https://doaj.org/article/f4e9a0cf20fd47adbb452f95a86298e3Test