المؤلفون: Jerold Jeyaratnam, Maura Faraci, Andrew R. Gennery, Katarzyna Drabko, Mattia Algeri, Akira Morimoto, Tiarlan Sirait, Arjan C. Lankester, Michael Albert, Benedicte Neven, Joost Frenkel, on behalf of the EBMT Inborn Errors Working Party

المصدر: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Inborn metabolic disease, Mevalonic aciduria, Therapeutic options, Auto-inflammation, Allogeneic stem cell transplantation, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1546-0096Test

الوصول الحر: https://doaj.org/article/390bed8901194b8ebf45ecb4e8ff728aTest

المؤلفون: G. Corsello, C. Castana, M. Caserta, R. Bonadia, B. Gramaglia, D. Bacile, S. Cancila, E. Catania, M. C. Maggio

المساهمون: G. Corsello, C. Castana, M. Caserta, R. Bonadia, B. Gramaglia, D. Bacile, S. Cancila, E. Catania, M. C. Maggio

مصطلحات موضوعية: Mevalonate Kinase Deficiency, hyperimmunoglobulinemia D syndrome, Mevalonic aciduria, Settore MED/38 - Pediatria Generale E Specialistica

العلاقة: 29th European Pediatric Rheumatology Congress; volume:21; issue:S2; firstpage:233; lastpage:233; numberofpages:1; journal:PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL; https://hdl.handle.net/10447/625469Test

الإتاحة: https://hdl.handle.net/10447/625469Test

المؤلفون: A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina

المصدر: Научно-практическая ревматология, Vol 59, Iss 3, Pp 326-334 (2021)

مصطلحات موضوعية: autoinflammatory syndrome, hyper igd syndrome, mevalonate kinase, mevalonic aciduria, mvk, periodic syndrome, children, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://rsp.mediar-press.net/rsp/article/view/3048Test; https://doaj.org/toc/1995-4484Test; https://doaj.org/toc/1995-4492Test

الوصول الحر: https://doaj.org/article/f66c1aefc43645eeae9a70d9f988db5eTest

المؤلفون: on behalf of the EBMT Inborn Errors Working Party

المساهمون: Arts-assistenten DV&B, Infection & Immunity, Arts-assistenten Kinderen, Child Health

مصطلحات موضوعية: Allogeneic stem cell transplantation, Auto-inflammation, Inborn metabolic disease, Mevalonic aciduria, Therapeutic options, Pediatrics, Perinatology, and Child Health, Rheumatology, Immunology and Allergy

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/449944Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/449944Test

المؤلفون: Hyery Kim, Beom Hee Lee, Hyo-Sang Do, Gu-Hwan Kim, Sunghan Kang, Kyung-Nam Koh, Ho Joon Im

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: mevalonic aciduria, mavalonic kinase deficiency, hematopoietic stem cell transplantation, acute myeloid leukemia, inflammation, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2021.782780/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/c640aea693a04a59859df7ad4f5c2c01Test

المؤلفون: Frouwkje A. Politiek, Hans R. Waterham

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: mevalonate kinase deficiency (MKD), protein prenylation, hyper IgD syndrome, mevalonic aciduria, isoprenoid biosynthesis, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2021.724991/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/31f6d2a4c60e46088d9662520a8d229cTest

المؤلفون: Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, Gabriela Maradiaga Panayotti

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)

مصطلحات موضوعية: Periodic fever syndrome, Mevalonate kinase deficiency, HyperIgD syndrome, Mevalonic aciduria, Inflammation, Arthralgias, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-019-1617-1Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/b5e52bec47f04c709af3c30a65d1cbfeTest

المؤلفون: Boursier, Guilaine, Rittore, Cécile, Milhavet, Florian, Cuisset, Laurence, Touitou, Isabelle

المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.science/hal-03656309Test ; Journal of Clinical Medicine, 2021, 10 (8), pp.1552. ⟨10.3390/jcm10081552⟩.

مصطلحات موضوعية: Autoinflammatory diseases, Hyper-IgD syndrome, Mevalonate kinase deficiency, Mevalonic aciduria, Phenotype–genotype correlations, Porokeratosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33917151; hal-03656309; https://hal.science/hal-03656309Test; https://hal.science/hal-03656309/documentTest; https://hal.science/hal-03656309/file/jcm-10-01552-v2.pdfTest; PUBMED: 33917151; PUBMEDCENTRAL: PMC8067830; WOS: 000644466500001

الإتاحة: https://doi.org/10.3390/jcm10081552Test
https://hal.science/hal-03656309Test
https://hal.science/hal-03656309/documentTest
https://hal.science/hal-03656309/file/jcm-10-01552-v2.pdfTest

المؤلفون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G. F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.

المساهمون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G.F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.

مصطلحات موضوعية: genotypic spectrum, HIDS, mevalonate, mevalonate kinase deficiency, mevalonic aciduria, phenotypic spectrum

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34145613; info:eu-repo/semantics/altIdentifier/wos/WOS:000667246700001; volume:44; issue:5; firstpage:1272; lastpage:1287; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11585/840819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114693375

الإتاحة: https://doi.org/10.1002/jimd.12412Test
https://hdl.handle.net/11585/840819Test

المؤلفون: Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou

المصدر: Journal of Clinical Medicine; Volume 10; Issue 8; Pages: 1552

مصطلحات موضوعية: autoinflammatory diseases, mevalonate kinase deficiency, mevalonic aciduria, hyper-IgD syndrome, porokeratosis, phenotype–genotype correlation

وصف الملف: application/pdf

العلاقة: Immunology; https://dx.doi.org/10.3390/jcm10081552Test

الإتاحة: https://doi.org/10.3390/jcm10081552Test