-
1
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 -
2
المؤلفون: Celia Hoebeke, Didier Scavarda, Isabelle Desguerre, Stéphane Auvin, Aline Cano, Samia Pichard, Brigitte Chabrol, Bastien Estublier
المساهمون: Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2021, 30, pp.17-21. ⟨10.1016/j.ejpn.2020.12.002⟩مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Cerliponase alfa, Gene mutation, Time-to-Treatment, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, medicine, Humans, Enzyme Replacement Therapy, Stage (cooking), Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Tripeptidyl-Peptidase 1, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, General Medicine, Enzyme replacement therapy, Tripeptidyl peptidase I, Recombinant Proteins, Natural history, Neuronal Ceroid Lipofuscinosis Type 2, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), France, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727f4e4c97bb167672eec8b5a0f0a2fdTest
https://pubmed.ncbi.nlm.nih.gov/33348105Test -
3
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