Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 4

Results: 15

Mouse models for congenital disorders of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 879, doi. 10.1007/s10545-011-9295-7

By:

Thiel, Christian;
Körner, Christian

Publication type:

Article

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 859, doi. 10.1007/s10545-011-9301-0

By:

Cantagrel, Vincent;
Lefeber, Dirk

Publication type:

Article

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 853, doi. 10.1007/s10545-011-9299-3

By:

Jaeken, Jaak

Publication type:

Article

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 891, doi. 10.1007/s10545-011-9306-8

By:

Sturiale, Luisa;
Barone, Rita;
Garozzo, Domenico

Publication type:

Article

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 901, doi. 10.1007/s10545-011-9311-y

By:

Guillard, Mailys;
Wada, Yoshinao;
Hansikova, Hana;
Yuasa, Isao;
Vesela, Katerina;
Ondruskova, Nina;
Kadoya, Machiko;
Janssen, Alice;
Heuvel, Lambertus;
Morava, Eva;
Zeman, Jiri;
Wevers, Ron;
Lefeber, Dirk

Publication type:

Article

Metabolic cutis laxa syndromes.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 907, doi. 10.1007/s10545-011-9305-9

By:

Mohamed, Miski;
Kouwenberg, Dorus;
Gardeitchik, Thatjana;
Kornak, Uwe;
Wevers, Ron;
Morava, Eva

Publication type:

Article

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 917, doi. 10.1007/s10545-011-9314-8

By:

Stancheva-Ivanova, Malina;
Wuyts, Wim;
Hul, Els;
Radeva, Briguita;
Vazharova, Radoslava;
Sokolov, Todor;
Vladimirov, Borislav;
Apostolova, Margarita;
Kremensky, Ivo

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5

By:

Achouitar, Samira;
Mohamed, Miski;
Gardeitchik, Thatjana;
Wortmann, Saskia;
Sykut-Cegielska, Jolanta;
Ensenauer, Regina;
Baulny, Hélène;
Õunap, Katrin;
Martinelli, Diego;
Vries, Maaike;
McFarland, Robert;
Kouwenberg, Dorus;
Theodore, Miranda;
Wijburg, Frits;
Grünewald, Stephanie;
Jaeken, Jaak;
Wevers, Ron;
Nijtmans, Leo;
Elson, Joanna;
Morava, Eva

Publication type:

Article

Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 953, doi. 10.1007/s10545-011-9321-9

By:

Sonneville, Leo;
Huijbregts, Stephan;
Licht, Robert;
Sergeant, Joseph;
Spronsen, Francjan

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 929, doi. 10.1007/s10545-011-9328-2

By:

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

Publication type:

Article

Mitochondrial DNA transcription regulation and nucleoid organization.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 941, doi. 10.1007/s10545-011-9330-8

By:

Rebelo, Adriana;
Dillon, Lloye;
Moraes, Carlos

Publication type:

Article

Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 963, doi. 10.1007/s10545-011-9329-1

By:

Viau, Krista;
Wengreen, Heidi;
Ernst, Sharon;
Cantor, Nancy;
Furtado, Larissa;
Longo, Nicola

Publication type:

Article

Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 869, doi. 10.1007/s10545-011-9337-1

By:

Mohorko, Elisabeth;
Glockshuber, Rudi;
Aebi, Markus

Publication type:

Article

CDG - an update.

Published in:

2011

By:

Morava, Eva;
Lefeber, Dirk

Publication type:

Editorial

How to find and diagnose a CDG due to defective N-glycosylation.

Published in:

2011

By:

Lefeber, Dirk;
Morava, Eva;
Jaeken, Jaak

Publication type:

Editorial