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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: 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: 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