Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

Author： Paesold-Burda Patricie   Maag Charlotte   Troxler Heinz   Foulquier Franois   Kleinert Peter   Schnabel Siegrun   Baumgartner Matthias   Hennet Thierry  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.18, Iss.22, 2009-11, pp. : 4350-4356

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

COG8 deficiency causes new congenital disorder of glycosylation type IIh

By Kranz Christian   Ng Bobby G.   Sharma Vandana   Eklund Erik A.   Miura Yoshiaki   Ungar Daniel   Lupashin Vladimir   Winkel R. Dennis   Cipollo John F.   Costello Catherine E.   Loh Eva   Hong Wanjin   Freeze Hudson H.  

Human Molecular Genetics, Vol. 16, Iss. 7, 2007-04 ,pp. : 731-741

Oxford University Press

Access to resources Recommend Favorite

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik

By Grubenmann Claudia E.  

Human Molecular Genetics, Vol. 13, Iss. 5, 2004-03 ,pp. : 535-542

Oxford University Press

Access to resources Recommend Favorite

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation

By Foulquier François   Ungar Daniel   Reynders Ellen   Zeevaert Renate   Mills Philippa   García-Silva Maria Teresa   Briones Paz   Winchester Bryan   Morelle Willy   Krieger Monty   Annaert Willem  

Human Molecular Genetics, Vol. 16, Iss. 7, 2007-04 ,pp. : 717-730

Oxford University Press

Access to resources Recommend Favorite

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

By Lbbehusen Jrgen   Thiel Christian   Rind Nina   Ungar Daniel   Prinsen Berthil H.C.M.T.   de Koning Tom J.   van Hasselt Peter M.   Krner Christian  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3623-3633

Oxford University Press

Access to resources Recommend Favorite

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

By Rind Nina   Schmeiser Verena   Thiel Christian   Absmanner Birgit   Lbbehusen Jrgen   Hocks Julia   Apeshiotis Neophytos   Wilichowski Ekkehard   Lehle Ludwig   Krner Christian  

Human Molecular Genetics, Vol. 19, Iss. 8, 2010-04 ,pp. : 1413-1424

Oxford University Press

Access to resources Recommend Favorite