Volume 34, Issue 4

Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

Search all Journal of Inherited Metabolic Disease articles

August 2011

15 articles in this issue

CDG – an update
Eva Morava
Dirk Lefeber
Editorial Open access 06 July 2011 Pages: 847 - 848
How to find and diagnose a CDG due to defective N-glycosylation
Dirk J. Lefeber
Eva Morava
Jaak Jaeken
Editorial Open access 08 July 2011 Pages: 849 - 852
Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
Jaak Jaeken
CDG - An Update 08 March 2011 Pages: 853 - 858
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases
Vincent Cantagrel
Dirk J. Lefeber
CDG - an update Open access 08 March 2011 Pages: 859 - 867
Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation
Elisabeth Mohorko
Rudi Glockshuber
Markus Aebi
CDG - An Update 26 May 2011 Pages: 869 - 878
Mouse models for congenital disorders of glycosylation
Christian Thiel
Christian Körner
CDG - an update 24 February 2011 Pages: 879 - 889
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation
Luisa Sturiale
Rita Barone
Domenico Garozzo
CDG - an update 08 March 2011 Pages: 891 - 899
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Mailys Guillard
Yoshinao Wada
Dirk J. Lefeber
CDG - an update Open access 23 March 2011 Pages: 901 - 906
Metabolic cutis laxa syndromes
Miski Mohamed
Dorus Kouwenberg
Eva Morava
CDG - an update Open access 23 March 2011 Pages: 907 - 916
Clinical and molecular studies of EXT1/EXT2 in Bulgaria
Malina Kirilova Stancheva-Ivanova
Wim Wuyts
Ivo Marinov Kremensky
CDG - an update 16 April 2011 Pages: 917 - 921
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
Samira Achouitar
Miski Mohamed
Eva Morava
CDG - an Update Open access 04 May 2011 Pages: 923 - 927
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)
Ana Isabel Vega
Celia Pérez-Cerdá
Belén Pérez
CDG - an Update 04 May 2011 Pages: 929 - 939
Mitochondrial DNA transcription regulation and nucleoid organization
Adriana P. Rebelo
Lloye M. Dillon
Carlos T. Moraes
Review 04 May 2011 Pages: 941 - 951
Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control
Leo M. J. de Sonneville
Stephan C. J. Huijbregts
Francjan J. van Spronsen
Original Article Open access 04 May 2011 Pages: 953 - 962
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria
Krista S. Viau
Heidi J. Wengreen
Nicola Longo
Original Article 10 May 2011 Pages: 963 - 971

Volume 34, Issue 4

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