المؤلفون: Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 272-279 (2024)

مصطلحات موضوعية: genotype–phenotype correlation, neuronal ceroid lipofuscinosis type 2, TPP1 enzyme deficiency, TPP1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/f61fe51db3314df292863543e663df7c

المؤلفون: Wibbeler, Eva, Wang, Raymond, de los Reyes, Emily, Specchio, Nicola, Gissen, Paul, Guelbert, Norberto, Nickel, Miriam, Schwering, Christoph, Lehwald, Lenora, Trivisano, Marina, Lee, Laura, Amato, Gianni, Cohen-Pfeffer, Jessica, Shediac, Renée, Leal-Pardinas, Fernanda, Schulz, Angela

المصدر: Journal of Child Neurology. 36(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Genetics, Neurodegenerative, Aging, Orphan Drug, Neurological, Child, Child, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Follow-Up Studies, Humans, Internationality, Male, Neuronal Ceroid-Lipofuscinoses, Recombinant Proteins, Retrospective Studies, Treatment Outcome, neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/66g4w681
https://escholarship.org/content/qt66g4w681/qt66g4w681.pdf

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

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1ac32db670a249a1b402ff17c6407d6d

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10164444/1/brainsci-13-00209.pdf; https://discovery.ucl.ac.uk/id/eprint/10164444/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10164444/1/brainsci-13-00209.pdf
https://discovery.ucl.ac.uk/id/eprint/10164444/

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

Relation: https://dx.doi.org/10.3390/brainsci13020209

الاتاحة: https://doi.org/10.3390/brainsci13020209

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.937485/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3c948be2c8754a43b36e84160f97ca6e

المؤلفون: Specchio N, Pietrafusa N, Trivisano M

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 16, Pp 213-222 (2020)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, tpp1, cerliponase alfa, late infantile, seizures, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/changing-times-for-cln2-disease-the-era-of-enzyme-replacement-therapy-peer-reviewed-article-TCRM; https://doaj.org/toc/1178-203X

URL الوصول: https://doaj.org/article/f4e9a0cf20fd47adbb452f95a86298e3

المؤلفون: Guelbert, Norberto, Atanacio, Nora, Denzler, Inés, Embiruçu, Emília Katiane, Mancilla, Nury, Naranjo, Ricardo, Pessoa, André, Spécola, Norma, Tavera, Lina, Troncoso, Mónica, Vergara, Diane

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2020 8

مصطلحات موضوعية: CLN2 disease, neuronal ceroid lipofuscinosis type 2, follow-up, lipofuscin storage diseases, neuronal ceroid lipofuscinosis.

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100307

المؤلفون: Löbbecke, Ina von

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2019 7

مصطلحات موضوعية: CLN2 disease, neuronal ceroid lipofuscinosis type 2, physiotherapy, medical aids, sensorimotor symptoms

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100308

المؤلفون: Norberto Guelbert, Nora Atanacio, Inés Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Naranjo, André Pessoa, Norma Spécola, Lina Tavera, Mónica Troncoso, Diane Vergara

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

مصطلحات موضوعية: CLN2 disease, neuronal ceroid lipofuscinosis type 2, follow-up, lipofuscin storage diseases, neuronal ceroid lipofuscinosis., Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100307&tlng=en; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/0154903b58e44bd79056b4765ea0ebc5

المؤلفون: Wibbeler, E, Wang, R, Reyes, EDL, Specchio, N, Gissen, P, Guelbert, N, Nickel, M, Schwering, C, Lehwald, L, Trivisano, M, Lee, L, Amato, G, Cohen-Pfeffer, J, Shediac, R, Leal-Pardinas, F, Schulz, A

المصدر: Journal of Child Neurology (2020) (In press).

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10118715/1/0883073820977997.pdf; https://discovery.ucl.ac.uk/id/eprint/10118715/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10118715/1/0883073820977997.pdf
https://discovery.ucl.ac.uk/id/eprint/10118715/

المؤلفون: Ina von Löbbecke

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)

مصطلحات موضوعية: CLN2 disease, neuronal ceroid lipofuscinosis type 2, physiotherapy, medical aids, sensorimotor symptoms, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100308&tlng=en; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/49697ea1e2d847058a9dd074241122e3

المؤلفون: Marina Trivisano, Lenora Lehwald, Paul Gissen, Jessica Cohen-Pfeffer, Nicola Specchio, Angela Schulz, Christoph Schwering, Laura Lee, Raymond Y. Wang, Renée Shediac, Eva Wibbeler, Norberto Guelbert, Emily de los Reyes, Fernanda Leal-Pardinas, Miriam Nickel, Gianni Amato

المصدر: Journal of Child Neurology
Journal of child neurology, vol 36, iss 6

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Pathology, Internationality, Endocrinology, Diabetes and Metabolism, Cerliponase alfa, Disease, Neurodegenerative, Biochemistry, Epilepsy, Endocrinology, 0302 clinical medicine, cerliponase alfa, Child, late infantile neuronal ceroid lipofuscinosis, Clinical course, Phenotype, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Natural history, Treatment Outcome, natural history, Child, Preschool, Neurological, Cognitive Sciences, Female, medicine.medical_specialty, Clinical Sciences, CLN2 disease, 03 medical and health sciences, Rare Diseases, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Molecular Biology, Retrospective Studies, Neurology & Neurosurgery, business.industry, Neurosciences, Original Articles, medicine.disease, neuronal ceroid lipofuscinosis type 2, Brain Disorders, Orphan Drug, 030104 developmental biology, atypical, Pediatrics, Perinatology and Child Health, Neurology (clinical), Late infantile neuronal ceroid lipofuscinosis, business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c1b91f1d50fad5d5f92cf2d45837a5
https://doi.org/10.1177/0883073820977997

المؤلفون: Lanny Christine Gultom, Valensia Vivian The

المصدر: Journal Of The Indonesian Medical Association. 71:234-240

مصطلحات موضوعية: Neuronal Ceroid Lipofuscinosis Type 2, business.industry, Medicine, business, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f34537fa7dc74b463ea14f4d0cc5d682
https://doi.org/10.47830/jinma-vol.71.5-2021-452

المؤلفون: Santos, Debora Mesojedovas

المساهمون: Matte, Ursula da Silveira

مصطلحات موضوعية: Inteligência artificial, Doenças raras, Lipofuscinoses ceróides nueronais, Imageamento por ressonância magnética, Artificial intelligence, Rare disease, Neuronal ceroid lipofuscinosis type 2, CLN2, Magnetic resonance imaging

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10183/265115; 001175453

الاتاحة: http://hdl.handle.net/10183/265115

المؤلفون: Carmen Mendes, André Luiz Santos Pessoa, Luis A Lizcano, Charles Marques Lourenço, Nury Mancilla, Francisca Mallorens, Mónica Troncoso, Carolina Rivera-Nieto, Nora Atanacio, Norberto Guelbert, N. Specola, Emily Gardner, Diane Vergara, Sara E. Mole, Lina Tavera, Carolina Fischinger Moura de Souza

المصدر: Journal of Paediatrics and Child Health

مصطلحات موضوعية: Batten disease, Pediatrics, medicine.medical_specialty, seizure, TPP1 deficiency, Late onset, Disease, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Humans, Medicine, 030212 general & internal medicine, late onset, Child, Clinical phenotype, Aged, Retrospective Studies, Tripeptidyl-Peptidase 1, business.industry, Medical record, Original Articles, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Original Article, mutation, Differential diagnosis, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f13b68fc3560a574c408c17cf4d500
https://doi.org/10.1111/jpc.15250

المؤلفون: Shawn C. Aylward, Nicolas J. Abreu, Jonathan Pindrik, W. Bruce Cherny, Emily de los Reyes, Matthew O’Neal

المصدر: Expert Opinion on Orphan Drugs. 8:445-454

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Health Policy, Cerliponase alfa, Progressive neurodegeneration, Disease, Enzyme replacement therapy, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Lysosomal storage disease, medicine, Pharmacology (medical), business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0387e35df40b11880b0e3f716505212f
https://doi.org/10.1080/21678707.2020.1856654

المؤلفون: Khachatryan L.G

المصدر: Neuroscience and Neurological Surgery. 6:01-08

مصطلحات موضوعية: Neuronal Ceroid Lipofuscinosis Type 2, Clinical genetic, Biology, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa3c1e2177ace04789cae7f2c5a494b0
https://doi.org/10.31579/2578-8868/129

المؤلفون: Lenora Lehwald, Jessica L. Cohen-Pfeffer, Karen Butler, Elizabeth Berry-Kravis, Sam Lu, James W. Wheless, Erika F. Augustine, Raymond Y. Wang, Natalie Cormier, Susan See, Joffre Olaya, Amy Vierhile, Fernanda Leal-Pardinas, Scott Demarest, Amy Yang, Jacqueline Madden, Emily de los Reyes, Dorna Chu

المصدر: Pediatric Neurology. 110:64-70

مصطلحات موضوعية: medicine.medical_specialty, Batten disease, Cerliponase alfa, Disease, Aminopeptidases, Neurosurgical Procedures, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Health care, Humans, Medicine, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Intensive care medicine, Infusion Pumps, Patient Care Team, Tripeptidyl-Peptidase 1, business.industry, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, United States, Neuronal Ceroid Lipofuscinosis Type 2, Infusions, Intraventricular, Neurology, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Interdisciplinary Communication, Neuronal ceroid lipofuscinosis, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c416d1f2369656f03d7a741af7d62364
https://doi.org/10.1016/j.pediatrneurol.2020.04.018

المؤلفون: Grace Lewis, Bernard Kim, Stephanie L Conway-Allen, Amanda M. Morrill

المصدر: Journal of Child Neurology. 35:348-353

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Batten disease, Cerliponase alfa, Gastroenterology, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Adverse effect, Tripeptidyl-Peptidase 1, business.industry, virus diseases, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, Treatment Outcome, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Disease Progression, Vomiting, Neuronal ceroid lipofuscinosis, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72e66027adcb81bc6162e42928db878
https://doi.org/10.1177/0883073819895694