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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 -
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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 -
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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 -
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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 -
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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 -
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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 -
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المؤلفون: H. Cahan, E. de los Reyes, D. Jacoby, Nicola Specchio, F. Genter, Ruth Williams, Paul Gissen, Angela Schulz
المصدر: Neuropediatrics. 47
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, business.industry, General Medicine, Disease, Cerliponase alfa, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Interim, Internal medicine, Pediatrics, Perinatology and Child Health, Dose escalation, Medicine, Neurology (clinical), Open label, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9035729dd8fff4b41f0989072cad78e4Test
https://doi.org/10.1055/s-0036-1583718Test -
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المؤلفون: Temitayo Ajayi, P. Slasor, E. de los Reyes, D. Jacoby, H. Cahan, Nicola Specchio, Angela Schulz, Paul Gissen
المصدر: European Journal of Paediatric Neurology. 21:e21
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Psychotherapist, business.industry, Extension study, General Medicine, Disease, Cerliponase alfa, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Interim, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3e232cbd5778d249c29c79e1c851655Test
https://doi.org/10.1016/j.ejpn.2017.04.989Test