-
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: 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