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: 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

المؤلفون: Wibbeler, E, Wang, R, Reyes, EDL, Specchio, N, Gissen, P, Guelbert, N, Nickel, M, Schwering, C, Lehwald, L, Trivisano, M, Lee, L, Amato, G, Cohen-Pfeffer, J, Shediac, R, Leal-Pardinas, F, Schulz, A

المصدر: Journal of Child Neurology (2020) (In press).

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118715/1/0883073820977997.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118715Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10118715/1/0883073820977997.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118715Test/

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

المصدر: Journal of Child Neurology
Journal of child neurology, vol 36, iss 6

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Pathology, Internationality, Endocrinology, Diabetes and Metabolism, Cerliponase alfa, Disease, Neurodegenerative, Biochemistry, Epilepsy, Endocrinology, 0302 clinical medicine, cerliponase alfa, Child, late infantile neuronal ceroid lipofuscinosis, Clinical course, Phenotype, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Natural history, Treatment Outcome, natural history, Child, Preschool, Neurological, Cognitive Sciences, Female, medicine.medical_specialty, Clinical Sciences, CLN2 disease, 03 medical and health sciences, Rare Diseases, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Molecular Biology, Retrospective Studies, Neurology & Neurosurgery, business.industry, Neurosciences, Original Articles, medicine.disease, neuronal ceroid lipofuscinosis type 2, Brain Disorders, Orphan Drug, 030104 developmental biology, atypical, Pediatrics, Perinatology and Child Health, Neurology (clinical), Late infantile neuronal ceroid lipofuscinosis, business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c1b91f1d50fad5d5f92cf2d45837a5Test
https://doi.org/10.1177/0883073820977997Test

المؤلفون: Shawn C. Aylward, Nicolas J. Abreu, Jonathan Pindrik, W. Bruce Cherny, Emily de los Reyes, Matthew O’Neal

المصدر: Expert Opinion on Orphan Drugs. 8:445-454

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Health Policy, Cerliponase alfa, Progressive neurodegeneration, Disease, Enzyme replacement therapy, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Lysosomal storage disease, medicine, Pharmacology (medical), business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0387e35df40b11880b0e3f716505212fTest
https://doi.org/10.1080/21678707.2020.1856654Test

المؤلفون: Lenora Lehwald, Jessica L. Cohen-Pfeffer, Karen Butler, Elizabeth Berry-Kravis, Sam Lu, James W. Wheless, Erika F. Augustine, Raymond Y. Wang, Natalie Cormier, Susan See, Joffre Olaya, Amy Vierhile, Fernanda Leal-Pardinas, Scott Demarest, Amy Yang, Jacqueline Madden, Emily de los Reyes, Dorna Chu

المصدر: Pediatric Neurology. 110:64-70

مصطلحات موضوعية: medicine.medical_specialty, Batten disease, Cerliponase alfa, Disease, Aminopeptidases, Neurosurgical Procedures, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Health care, Humans, Medicine, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Intensive care medicine, Infusion Pumps, Patient Care Team, Tripeptidyl-Peptidase 1, business.industry, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, United States, Neuronal Ceroid Lipofuscinosis Type 2, Infusions, Intraventricular, Neurology, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Interdisciplinary Communication, Neuronal ceroid lipofuscinosis, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c416d1f2369656f03d7a741af7d62364Test
https://doi.org/10.1016/j.pediatrneurol.2020.04.018Test

المؤلفون: Grace Lewis, Bernard Kim, Stephanie L Conway-Allen, Amanda M. Morrill

المصدر: Journal of Child Neurology. 35:348-353

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Batten disease, Cerliponase alfa, Gastroenterology, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Adverse effect, Tripeptidyl-Peptidase 1, business.industry, virus diseases, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Treatment Outcome, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Disease Progression, Vomiting, Neuronal ceroid lipofuscinosis, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72e66027adcb81bc6162e42928db878Test
https://doi.org/10.1177/0883073819895694Test

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

المساهمون: Pediatrics, Orthopedics and Sports Medicine, Child and Adolescent Psychiatry / Psychology, Clinical Genetics, Radiology & Nuclear Medicine, Neurosurgery

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16(1):221. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Lysosomal storage disorder, Tripeptidyl peptidase, Presymptomatic, Cerliponase alfa, Disease, CLN2 disease, Bayley Scales of Infant Development, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Medicine, Humans, Pharmacology (medical), Toddler, Late-infantile neuronal ceroid lipofuscinosis, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Genetics (clinical), Tripeptidyl-Peptidase 1, business.industry, Research, Infant, General Medicine, Enzyme replacement therapy, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, 030104 developmental biology, Child, Preschool, Intracerebroventricular, Evoked Potentials, Visual, Cerebellar atrophy, business, 030217 neurology & neurosurgery, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826aa62f4a612dc16473ce736a138c8bTest
https://pubmed.ncbi.nlm.nih.gov/33990214Test

المؤلفون: Martin L. Katz, Brian R. Vuillemenot, Greg de Hart, Don Musson, Joshua Henshaw, Charles A. O'Neill, Derek Kennedy, Kevin Hammon

المصدر: Clinical and Translational Science
Clinical and Translational Science, Vol 14, Iss 5, Pp 1810-1821 (2021)

مصطلحات موضوعية: Male, Central nervous system, Cmax, RM1-950, Cerliponase alfa, Pharmacology, General Biochemistry, Genetics and Molecular Biology, Drug Administration Schedule, Article, Cerebrospinal fluid, Dogs, Rare Diseases, Pharmacokinetics, Neuronal Ceroid-Lipofuscinoses, Medicine, Animals, Humans, Drug Dosage Calculations, Enzyme Replacement Therapy, General Pharmacology, Toxicology and Pharmaceutics, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Tripeptidyl-Peptidase 1, business.industry, General Neuroscience, Research, Area under the curve, General Medicine, Enzyme replacement therapy, Articles, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Disease Models, Animal, Macaca fascicularis, medicine.anatomical_structure, Infusions, Intraventricular, Treatment Outcome, Child, Preschool, Disease Progression, Female, Therapeutics. Pharmacology, Public aspects of medicine, RA1-1270, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b9f7df12c1312cc9482204d3472724Test
https://pubmed.ncbi.nlm.nih.gov/34076336Test

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

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

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Health Status, Disease, Cerliponase alfa, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Quality of life, Rating scale, Neuronal Ceroid-Lipofuscinoses, Utility values, Surveys and Questionnaires, medicine, Vignettes, Humans, Pharmacology (medical), 030212 general & internal medicine, Child, Genetics (clinical), Depression (differential diagnoses), Clinical Trials as Topic, Tripeptidyl-Peptidase 1, business.industry, Depression, 030503 health policy & services, Research, CLN2, General Medicine, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, Quality of Life, Anxiety, Medicine, medicine.symptom, 0305 other medical science, business, Progressive disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257887b0360c80c3582e312605ae3645Test
https://pubmed.ncbi.nlm.nih.gov/33980287Test