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1دورية أكاديمية
المؤلفون: Nickel, Miriam, Gissen, Paul, Greenaway, Rebecca, Cappelletti, Simona, Hamborg, Christiane, Ragni, Benedetta, Ribitzki, Tanja, Schulz, Angela, Tondo, Ilaria, Specchio, Nicola
المصدر: Neuropediatrics (2023) (In press).
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Pediatrics, Neurosciences & Neurology, CLN2 disease, neuronal ceroid lipofuscinosis, language development, enzyme replacement therapy, cerliponase alfa
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173923/1/s-0043-1770143.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173923Test/
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2
المؤلفون: López Feito, Silvia
المساهمون: Casillas Santana, Lourdes ( tutor), Pedraz Marcos, Azucena (tutor), UAM. Departamento de Enfermería
المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
instnameمصطلحات موضوعية: Case Managers, Enfermedades Raras, Pediatría, Manejo de la enfermedad, Disease Management, Neurodegenerative Diseases, Cuidadores, Enfermedades Neurodegenerativas, Nursing, Neuronal Ceroid Lipofuscinoses, Pediatrics, Rare Diseases, Caregivers, Infusions Intraventricular, Infusiones intraventriculares, Enfermería, Cerliponasa alfa, Lipofuscinosis neuronal ceroidea, Cerliponase Alfa, Gestores de Casos
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e7983568059fbda0ba5fe51023bedee7Test
https://hdl.handle.net/10486/703394Test -
3
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 -
4رسالة جامعية
المؤلفون: López Feito, Silvia
المساهمون: Casillas Santana, María Lourdes, Pedraz Marcos, María Azucena, UAM. Departamento de Enfermería
مصطلحات موضوعية: Cerliponasa alfa, Cuidadores, Enfermedades Neurodegenerativas, Enfermedades Raras, Enfermería, Gestores de Casos, Infusiones intraventriculares, Lipofuscinosis neuronal ceroidea, Manejo de la enfermedad, Pediatría, Caregivers, Case Managers, Cerliponase Alfa, Disease Management, Infusions Intraventricular, Neurodegenerative Diseases, Neuronal Ceroid Lipofuscinoses, Nursing, Pediatrics, Rare Diseases
وصف الملف: application/pdf
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5
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: 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 -
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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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المصدر: Molecular Genetics and Metabolism. 132:S94-S95
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Disease, Cerliponase alfa, Biochemistry, Natural history, Endocrinology, Cohort, Genetics, Medicine, business, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aab765988e7ce85aa7cd265a6047c67dTest
https://doi.org/10.1016/j.ymgme.2020.12.228Test -
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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: 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