-
1
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 6مصطلحات 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 -
2
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 -
3
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 -
4
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 -
5
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 -
6
المؤلفون: Angela, Schulz, Temitayo, Ajayi, Nicola, Specchio, Emily, de Los Reyes, Paul, Gissen, Douglas, Ballon, Jonathan P, Dyke, Heather, Cahan, Peter, Slasor, David, Jacoby, Alfried, Kohlschütter, Barbara, Csányi
المصدر: New England Journal of Medicine. 378:1898-1907
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Progressive dementia, Kaplan-Meier Estimate, Disease, Cerliponase alfa, Language Development, Gastroenterology, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Humans, Dementia, Enzyme Replacement Therapy, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Tripeptidyl-Peptidase 1, business.industry, Historically Controlled Study, General Medicine, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Clinical trial, Infusions, Intraventricular, 030104 developmental biology, Motor Skills, Child, Preschool, Disease Progression, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43c9da56520f991daaca69dc0323363Test
https://doi.org/10.1056/nejmoa1712649Test -
7
المؤلفون: Sara E. Mole, Henrik Zetterberg, Katharina Iwan, Laura M. Lee, Nina Patel, Mina Borisova, Paul Gissen, Amanda Heslegrave, Wendy E. Heywood, Philippa B. Mills, Kevin Mills, Rebecca Bower
المصدر: F1000Research. 10:614
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, General Immunology and Microbiology, business.industry, Neurodegeneration, General Medicine, Enzyme replacement therapy, Cerliponase alfa, Disease, medicine.disease, Gastroenterology, General Biochemistry, Genetics and Molecular Biology, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Cerebrospinal fluid, Internal medicine, Biomarker (medicine), Medicine, Neuronal ceroid lipofuscinosis, General Pharmacology, Toxicology and Pharmaceutics, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2bb564316030f63398369a48f862c8eaTest
https://doi.org/10.12688/f1000research.54556.1Test -
8
المؤلفون: O.M. Espitia Segura, N.I. Mancilla, L. Tavera, Z. Hernández, R.A. Naranjo
المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100718-(2021)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Medicine (General), Pediatrics, medicine.medical_specialty, Neuronal, QH301-705.5, Neuronal ceroid Lipofuscinosis, Disease, Cerliponase alfa, 03 medical and health sciences, R5-920, 0302 clinical medicine, Endocrinology, Genetics, medicine, Biology (General), Adverse effect, Molecular Biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Enzyme replacement therapy, medicine.disease, Phenotype, Cohort, Neuronal ceroid lipofuscinosis, Age of onset, business, Ceroid lipofuscinosis, 030217 neurology & neurosurgery, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5c698459353b1220c1d23fac136ab9Test
https://doi.org/10.1016/j.ymgmr.2021.100718Test -
9
المؤلفون: Charlie Fairhurst, Norberto Guelbert, Renée Shediac, Szilard Kiss, Lenora Lehwald, Ruth Williams, Martin Blohm, Andrea West, Jessica L. Cohen-Pfeffer, Angela Schulz, John A. Lawson, Meral Topçu, Annamaria Kofler, Margie Frazier, Svetlana Mikhaylova, Emily de los Reyes, Jonathan W. Mink, Nicola Specchio, Kristen Drago, Miriam Nickel, Boris Zernikow, Heather R. Adams, Jonas Denecke, Mary Anne Leung, Katherine B. Sims, Ina von Löbbecke
المصدر: Pediatric Neurology. 69:102-112
مصطلحات موضوعية: medicine.medical_specialty, Palliative care, Language delay, Clinical Neurology, Cerliponase alfa, Disease, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Neurodisability, Humans, Medicine, Pediatrics, Perinatology, and Child Health, Disease management (health), Psychiatry, Tripeptidyl-Peptidase 1, business.industry, Disease Management, Neuronal Ceroid Lipofuscinosis Type 2, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb32f194d9c6ad82162bbc643d3cb3f7Test
https://doi.org/10.1016/j.pediatrneurol.2017.01.034Test -
10
المؤلفون: Anthony Markham
المصدر: Drugs. 77:1247-1249
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Disease, Cerliponase alfa, 03 medical and health sciences, 0302 clinical medicine, Pharmacotherapy, Neuronal Ceroid-Lipofuscinoses, Humans, Medicine, Enzyme Replacement Therapy, Pharmacology (medical), In patient, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Drug Approval, Paediatric patients, Tripeptidyl-Peptidase 1, United States Food and Drug Administration, business.industry, Enzyme replacement therapy, Recombinant Proteins, United States, Surgery, Europe, Neuronal Ceroid Lipofuscinosis Type 2, 030104 developmental biology, Child, Preschool, Disease Progression, Female, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a0c3273374b35c10b2c2c9e6b833beTest
https://doi.org/10.1007/s40265-017-0771-8Test