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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: Seyed Ahmad Hosseini, Sara Rahafard, Alireza Kia
المصدر: Journal of Clinical and Basic Research, Vol 6, Iss 1, Pp 32-36 (2022)
مصطلحات موضوعية: lysosomal storage diseases, metachromatic leukodystrophy, demyelinating disease, neurodegenerative disease, late infantile mld, Internal medicine, RC31-1245
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2023)
مصطلحات موضوعية: CLN6, Neuronal ceroid lipofuscinoses, Lysosomal storage diseases, Batten disease, Variant late infantile, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100601&lng=en&tlng=enTest; http://www.scielo.br/pdf/jiems/v10/2326-4594-jiems-10-e20220006.pdfTest; https://doaj.org/toc/2326-4594Test
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4دورية أكاديمية
المؤلفون: R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, Batten disease, CNL6, Variant late infantile NCL, vLINCL, Lysosomal storage disease, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
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
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6دورية أكاديمية
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
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7دورية أكاديمية
المؤلفون: Jodi L. McBride, Martha Neuringer, Betsy Ferguson, Steven G. Kohama, Ian J. Tagge, Robert C. Zweig, Laurie M. Renner, Trevor J. McGill, Jonathan Stoddard, Samuel Peterson, Weiping Su, Larry S. Sherman, Jacqueline S. Domire, Rebecca M. Ducore, Lois M. Colgin, Anne D. Lewis
المصدر: Neurobiology of Disease, Vol 119, Iss , Pp 65-78 (2018)
مصطلحات موضوعية: CLN7, MFSD8, Late infantile neuronal ceroid lipofuscinosis, Batten disease, Non-human primate, Neurodegeneration, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996118302560Test; https://doaj.org/toc/1095-953XTest
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8دورية أكاديمية
المؤلفون: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, NCL, MFSD8, NCL7, Variant late-infantile NCL, Rett-like phenotype, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0669-7Test; https://doaj.org/toc/1471-2350Test
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9دورية أكاديمية
المؤلفون: Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-17 (2018)
مصطلحات موضوعية: Krabbe disease, Globoid cell leukodystrophy, Late-infantile, Infantile, Natural history, Newborn screening, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0872-9Test; https://doaj.org/toc/1750-1172Test
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10دورية أكاديمية
المؤلفون: Mazurkiewicz-Bełdzińska, Maria, del Toro, Mireia, Haliloğlu, Göknur, Huidekoper, Hidde H., Kravljanac, Ružica, Mühlhausen, Chris, Andersen, Brian Nauheimer, Prpić, Igor, Striano, Pasquale, Auvin, Stéphane
المصدر: http://bib.irb.hr/1252261Test ; Expert Review of Neurotherapeutics ; Volume 21 ; Issue 11 ; ISSN 1473-7175 (Print.
مصطلحات موضوعية: CLN2 disease, diagnosis, epilepsy, language, late infantile, seizures, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Pedijatrija, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Pediatrics
وصف الملف: application/pdf
العلاقة: Sveučilište u Rijeci. Medicinski fakultet. Katedra za pedijatriju.; University of Rijeka. Faculty of Medicine. Department of Pediatrics.; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7358Test; https://urn.nsk.hr/urn:nbn:hr:184:506279Test; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7358/datastream/FILE0Test