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1دورية أكاديمية
المؤلفون: Stulnig, Thomas Michael
مصطلحات موضوعية: Lysosomale Speicherkrankheiten, Seltene Krankheiten, Enzymersatztherapie, Substratreduktionstherapie, Pharmakologische Chaperone, Lysosomal storage diseases, Orphan diseases, Enzyme replacement therapy, Substrate reduction therapy, Pharmacological chaperones
جغرافية الموضوع: UMW:14572
وصف الملف: text/html
العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-6637/128Test; urn:nbn:at:at-ubmuw:3-6637; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-6637Test; local:99144956191303331; system:AC15385309
الإتاحة: https://doi.org/10.1007/s41969-018-0053-4Test
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-6637Test -
2دورية أكاديميةLipids, lysosomes and mitochondria: insights into Lewy body formation from rare monogenic disorders.
المؤلفون: Erskine, Daniel, Koss, David, Korolchuk, Viktor I, Outeiro, Tiago F, Attems, Johannes, McKeith, Ian
المصدر: Acta neuropathologica 141(4), 511 - 526 (2021). doi:10.1007/s00401-021-02266-7
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Hemochromatosis: metabolism, Hemochromatosis: pathology, Humans, Lewy Bodies: metabolism, Lewy Bodies: pathology, Lipid Metabolism: physiology, Lysosomal Storage Diseases: metabolism, Lysosomal Storage Diseases: pathology, Lysosomes: metabolism, Lysosomes: pathology, Mitochondria: metabolism, Mitochondria: pathology, Mitochondrial Diseases: metabolism, Mitochondrial Diseases: pathology, alpha-Synuclein: metabolism, Alpha-synuclein, Autophagy, Catabolism, Lewy body, Lipid metabolism, Mitochondria
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1432-0533; info:eu-repo/semantics/altIdentifier/pmid/pmid:33515275; info:eu-repo/semantics/altIdentifier/issn/0001-6322; https://pub.dzne.de/record/157796Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-01253%22Test
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3دورية أكاديمية
المؤلفون: Ginevrino M., Battini R., Nuovo S., Simonati A., Micalizzi A., Contaldo I., Serpieri V., Valente E. M.
المساهمون: Ginevrino, M., Battini, R., Nuovo, S., Simonati, A., Micalizzi, A., Contaldo, I., Serpieri, V., Valente, E. M.
مصطلحات موضوعية: De novo mutation, IRF2BPL, Lysosomal storage disorder, Neurodegenerative disorder, Neuronal ceroid lipofuscinosi, Carrier Protein, Child, DNA Mutational Analysi, Diagnosis, Differential, Female, Human, Lysosome, Mutation, Neurodegenerative Disease, Nuclear Protein, Phenotype, Skin, Lysosomal Storage Diseases
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31583567; info:eu-repo/semantics/altIdentifier/wos/WOS:000489549500002; volume:47; issue:1; firstpage:711; lastpage:714; numberofpages:4; journal:MOLECULAR BIOLOGY REPORTS; http://hdl.handle.net/11573/1540211Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073998446
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4كتاب إلكتروني
المؤلفون: Diane Xavier de Ávila, Humberto Villacorta Junior
نوع المادة: eBook.
الموضوعات: Amyloidosis, Lysosomal storage diseases
تصنيفات: MEDICAL / Cardiology, MEDICAL / Gastroenterology, MEDICAL / Hematology, MEDICAL / Nephrology, MEDICAL / Neurology
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5دورية أكاديمية
المؤلفون: Moreira, Gustavo A., Kyosen, Sandra O. UNIFESP, Patti, Camilla L. UNIFESP, Martins, Ana Maria UNIFESP, Tufik, Sergio UNIFESP
المساهمون: Inst Sono, Universidade Federal de São Paulo (UNIFESP)
مصطلحات موضوعية: Lysosomal storage diseases, Inborn error of metabolism, Sleep-disordered breathing, Hypoxia, Polysomnography
وصف الملف: 791-797
العلاقة: Sleep and Breathing; http://dx.doi.org/10.1007/s11325-014-0944-6Test; Sleep and Breathing. Heidelberg: Springer Heidelberg, v. 18, n. 4, p. 791-797, 2014.; http://repositorio.unifesp.br/handle/11600/38499Test; WOS:000344784800017
الإتاحة: https://doi.org/10.1007/s11325-014-0944-6Test
http://repositorio.unifesp.br/handle/11600/38499Test -
6كتاب إلكتروني
المؤلفون: Deborah Elstein, Gheona Altarescu, Michael Beck
نوع المادة: eBook.
تصنيفات: MEDICAL / Diseases, MEDICAL / Genetics
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7دورية أكاديمية
المؤلفون: Meikle, P., Hopwood, J.
مصطلحات موضوعية: Humans, Lysosomal Storage Diseases, Neonatal Screening, Bone Marrow Transplantation, Prevalence, Biomedical Technology, Infant, Newborn
العلاقة: European Journal of Pediatrics, 2003; 162(0):S34-S37; http://hdl.handle.net/2440/7226Test
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8دورية أكاديمية
المؤلفون: Smit, GPA
المساهمون: Sibinga, CTS, Dodd, RY
المصدر: Smit , GPA 2002 , Hereditary metabolic diseases and stem cell transplantation. in CTS Sibinga & RY Dodd (eds) , TRANSMISSIBLE DISEASES AND BLOOD TRANSFUSION, PROCEEDINGS . DEVELOPMENTS IN HEMATOLOGY AND IMMUNOLOGY , vol. 37 , Springer , DORDRECHT , pp. 143-145 , 26th International Symposium on Blood Transfusion , Netherlands , 03/10/2001 .
مصطلحات موضوعية: LYSOSOMAL STORAGE DISEASES, THERAPY
الإتاحة: http://hdl.handle.net/11370/34b72bf4-371f-4de7-abc0-0157e035503fTest
https://research.rug.nl/en/publications/hereditary-metabolicTest-diseases-and-stem-cell-transplantation(34b72bf4-371f-4de7-abc0-0157e035503f).html -
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10دورية أكاديمية
المؤلفون: Colón Mejeras, Cristóbal, Ortolano, Saida, Melcón Crespo, Cristina, Álvarez González, José Víctor, López Suárez, Olalla Elena, Couce Pico, María de la Luz, Fernández Lorenzo, José Ramón
المساهمون: Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría
مصطلحات موضوعية: Fabry disease, Newborn screening, Lysosomal storage diseases, Genetic variants of unknown significance
وصف الملف: application/pdf
العلاقة: https://doi.org/10.1007/s00431-017-2950-8Test; Colon, C., Ortolano, S., Melcon-Crespo, C. et al. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr 176, 1075–1081 (2017). https://doi.org/10.1007/s00431-017-2950-8Test; http://hdl.handle.net/10347/24189Test
