المؤلفون: Sivananthan, Siyamini, Lee, Laura, Anderson, Glenn, Csanyi, Barbara, Williams, Ruth, Gissen, Paul

المصدر: Brain Sciences , 13 (2) , Article 209. (2023)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2) disease, lysosomal storage disorder, intracerebroventricular, enzyme replacement therapy, disease progression, neurodegeneration, biomarker, blood buffy coat, electron microscopy, curvilinear inclusions

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10164444/1/brainsci-13-00209.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10164444Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10164444/1/brainsci-13-00209.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10164444Test/

المؤلفون: Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams, Paul Gissen

المصدر: Brain Sciences; Volume 13; Issue 2; Pages: 209

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2) disease, lysosomal storage disorder, intracerebroventricular, enzyme replacement therapy, disease progression, neurodegeneration, biomarker, blood buffy coat, electron microscopy, curvilinear inclusions

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/brainsci13020209Test

الإتاحة: https://doi.org/10.3390/brainsci13020209Test

المؤلفون: Amanda Mortensen, Eva M. Raebel, Samantha Wiseman

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis type 2 (CLN2), COVID-19, Cerliponase alfa, Managed access agreement, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/1ac32db670a249a1b402ff17c6407d6dTest

المؤلفون: Sui-Bing Miao, Hui Guo, De-Xian Kong, Yuan-Yuan Zhao, Shu-Hong Pan, Yan Jiang, Xing Gao, Xiao-Hua Wu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2), tripeptidyl peptidase I (TPP1), variant, molecular analysis, splicing assay, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.937485/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/3c948be2c8754a43b36e84160f97ca6eTest

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

المؤلفون: Nickel, Miriam, Simonati, Alessandro, Jacoby, David, Lezius, Susanne, Kilian, Dirk, Van de Graaf, Benjamin, Pagovich, Odelya E, Kosofsky, Barry, Yohay, Kaleb, Downs, Matthew, Slasor, Peter, Ajayi, Temitayo, Crystal, Ronald G, Kohlschütter, Alfried, Sondhi, Dolan, Schulz, Angela

المساهمون: Nickel, Miriam, Simonati, Alessandro, Jacoby, David, Lezius, Susanne, Kilian, Dirk, Van de Graaf, Benjamin, Pagovich, Odelya E, Kosofsky, Barry, Yohay, Kaleb, Downs, Matthew, Slasor, Peter, Ajayi, Temitayo, Crystal, Ronald G, Kohlschütter, Alfried, Sondhi, Dolan, Schulz, Angela

مصطلحات موضوعية: Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2), disease, progression, assessment, patient, therapy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30119717; info:eu-repo/semantics/altIdentifier/wos/WOS:000439079800022; volume:2; issue:8; firstpage:582; lastpage:590; numberofpages:9; journal:THE LANCET CHILD & ADOLESCENT HEALTH; http://hdl.handle.net/11562/984479Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049315671; https://doi.org/10.1016/S2352-4642Test(18)30179-2

الإتاحة: https://doi.org/10.1016/S2352-4642Test(18)30179-2
http://hdl.handle.net/11562/984479Test

المصدر: A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04480476Test

المصدر: A Prospective, Observational Study to Evaluate Ocular Disease Progression in Children With CLN2 Batten Disease

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04462692Test