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: Nicola Pietrafusa, Nicola Specchio, Marina Trivisano

المصدر: Therapeutics and Clinical Risk Management. 16:213-222

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, Chemical Health and Safety, business.industry, Population, General Medicine, Disease, Enzyme replacement therapy, Cerliponase alfa, 030204 cardiovascular system & hematology, medicine.disease, Efficacy, Natural history, 03 medical and health sciences, Drug withdrawal, 0302 clinical medicine, Tolerability, Medicine, Pharmacology (medical), 030212 general & internal medicine, General Pharmacology, Toxicology and Pharmaceutics, business, education, Safety Research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fff3ed9539f2a6c5a25e4934d78d2f58Test
https://doi.org/10.2147/tcrm.s241048Test

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: Angela Schulz, Stephan Storch, Alfried Kohlschütter, Udo Bartsch

المصدر: CNS Drugs

مصطلحات موضوعية: medicine.medical_specialty, Neurology, medicine.medical_treatment, Leading Article, Cerliponase alfa, Retina, Small Molecule Libraries, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, medicine, Animals, Humans, Dementia, Pharmacology (medical), Neuroinflammation, Tripeptidyl-Peptidase 1, business.industry, Neurodegeneration, Brain, Stem-cell therapy, medicine.disease, 3. Good health, 030227 psychiatry, Psychiatry and Mental health, Neuronal ceroid lipofuscinosis, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee0101a5e15f7747e9cef88f5a0a98a5Test
https://doi.org/10.1007/s40263-019-00620-8Test

المؤلفون: Becky Schweighardt, Temitayo Ajayi, Charles A. O'Neill, Joshua Henshaw, Greg de Hart, Heather Cahan, Anu Cherukuri, Andrea Van Tuyl, Dave Jacoby, Laurie Bray, Peter Slasor

المصدر: Clinical Immunology. 197:68-76

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Immunology, Cerliponase alfa, Immunoglobulin E, Gastroenterology, Antibodies, Drug Hypersensitivity, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Humans, Immunology and Allergy, Enzyme Replacement Therapy, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Adverse effect, Tripeptidyl-Peptidase 1, biology, business.industry, Immunogenicity, Enzyme replacement therapy, medicine.disease, Antibodies, Neutralizing, Recombinant Proteins, Infusions, Intraventricular, 030104 developmental biology, Child, Preschool, Disease Progression, biology.protein, Female, Antibody, business, 030217 neurology & neurosurgery, Anaphylaxis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9190f89b20d2a23077cb439a3658026Test
https://doi.org/10.1016/j.clim.2018.09.003Test

المؤلفون: Temitayo Ajayi, Benjamin Van de Graaf, Ronald G. Crystal, Kaleb Yohay, Odelya E. Pagovich, Dolan Sondhi, Matthew Downs, Alessandro Simonati, David Jacoby, Peter Slasor, Susanne Lezius, Dirk Kilian, Angela Schulz, Miriam Nickel, Barry E. Kosofsky, Alfried Kohlschütter

المصدر: The Lancet Child & Adolescent Health. 2:582-590

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, assessment, Cerliponase alfa, Disease, patients, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Developmental and Educational Psychology, medicine, Humans, Dementia, Longitudinal Studies, Child, Psychomotor learning, disease, therapy, Tripeptidyl-Peptidase 1, business.industry, Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2), progression, Infant, medicine.disease, Natural history, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, business, 030217 neurology & neurosurgery, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866bc0beced8cf0629c622f81a9fdbb8Test
https://doi.org/10.1016/s2352-4642Test(18)30179-2

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