ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies-Reference-Cited by-同舟云学术

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Published:2016-06-10 Issue:5 Volume:39 Page:713-723
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Morava Eva,Tiemes Vera,Thiel Christian,Seta Nathalie,de Lonlay Pascale,de Klerk Hans,Mulder Margot,Rubio-Gozalbo Estela,Visser Gepke,van Hasselt Peter,Horovitz Dafne D. G.,de Souza Carolina Fischinger Moura,Schwartz Ida V. D.,Green Andrew,Al-Owain Mohammed,Uziel Graciella,Sigaudy Sabine,Chabrol Brigitte,van Spronsen Franc-Jan,Steinert Martin,Komini Eleni,Wurm Donald,Bevot Andrea,Ayadi Addelkarim,Huijben Karin,Dercksen Marli,Witters Peter,Jaeken Jaak,Matthijs Gert,Lefeber Dirk J.,Wevers Ron A.

Funder

Sixth Framework Programme (BE)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9945-x.pdf

Reference12 articles.

1. Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J (2010) A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 5:7

2. Dercksen M, Crutchley AC, Honey EM, Lippert MM, Matthijs G, Mienie LJ, Schuman HC, Vorster BC, Jaeken J (2013) ALG6-CDG in South Africa: genotype-phenotype description of five novel patients. JIMD Rep 8:17–23

3. Drijvers JM, Lefeber DJ, de Munnik SA, Pfundt R, van de Leeuw N, Marcelis C, Thiel C, Koerner C, Wevers RA, Morava E (2010) Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. Clin Genet 77:507–509