CDG - an update.

Autor: Morava E, Lefeber D

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2011 Aug; Vol. 34 (4), pp. 847-8.

CDG – an update

Autor: Eva Morava, Dirk Lefeber

Publikováno v: Journal of Inherited Metabolic Disease, 34, 4, pp. 847-8
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 847-8

As of 2011, we know more than 3000 inherited diseases. Among these genetic entities, congenital disorders of glycosylation is one of the most rapidly growing groups, with actually about 50 subtypes known, positioning CDG in the focus of attention of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2997dbe9be92cb270d358badb006fd2
https://doi.org/10.1007/s10545-011-9366-9

Metabolic cutis laxa syndromes

Autor: Uwe Kornak, Miski Mohamed, Thatjana Gardeitchik, Dorus Kouwenberg, Eva Morava, Ron A. Wevers

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

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

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

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

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

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG).

Autor: Vega, Ana, Pérez-Cerdá, Celia, Abia, David, Gámez, Alejandra, Briones, Paz, Artuch, Rafael, Desviat, Lourdes, Ugarte, Magdalena, Pérez, Belén

Publikováno v: Journal of Inherited Metabolic Disease; Aug2011, Vol. 34 Issue 4, p929-939, 11p