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: 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, 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

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