Zobrazeno 1 - 4
of 4
pro vyhledávání: '"CDG - an update"'
Autor:
Alice Janssen, Lambertus P. van den Heuvel, Maïlys Guillard, Eva Morava, Nina Ondruskova, Hana Hansikova, Jiri Zeman, Machiko Kadoya, Isao Yuasa, Katerina Vesela, Ron A. Wevers, Yoshinao Wada, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6
Item does not contain fulltext Congenital disorders of glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7dcbabbbc3a6412ee94b427ea67e89
https://doi.org/10.1007/s10545-011-9311-y
https://doi.org/10.1007/s10545-011-9311-y
Publikováno v:
Journal of Inherited Metabolic Disease, 34, 907-16
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 907-16
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 907-16
Contains fulltext : 98094.pdf (Publisher’s version ) (Open Access) Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67aa524ee404cf04c01d2410dddc726
http://hdl.handle.net/2066/98094
http://hdl.handle.net/2066/98094
Autor:
Dirk Lefeber, Vincent Cantagrel
Publikováno v:
Journal of Inherited Metabolic Disease, 34, 4, pp. 859-67
Journal of Inherited Metabolic Disease, 34, 859-67
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 859-67
Journal of Inherited Metabolic Disease
Item does not contain fulltext Polyisoprenoid alcohols are membrane lipids that are present in every cell, conserved from archaea to higher eukaryotes. The most common form, alpha-saturated polyprenol or dolichol is present in all tissues and most or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a371609327c259285f41d5cb8e0723
Autor:
Hélène Ogier de Baulny, Jaak Jaeken, Frits A. Wijburg, Joanna L. Elson, Regina Ensenauer, Ron A. Wevers, Dorus Kouwenberg, Thatjana Gardeitchik, Miranda Theodore, Robert McFarland, Miski Mohamed, Maaike de Vries, Samira Achouitar, Stephanie Grunewald, Jolanta Sykut-Cegielska, Saskia B. Wortmann, Katrin Õunap, Diego Martinelli, Leo G.J. Nijtmans, Eva Morava
Publikováno v:
Journal of inherited metabolic disease, 34(4), 923-927. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 923-7
Journal of Inherited Metabolic Disease, 34, 923-7
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 923-7
Journal of Inherited Metabolic Disease, 34, 923-7
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5562b8b7ba547d43e4fecc43b6771de