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

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

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

Oxford University Press

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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

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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

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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

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ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

By Grubenmann C.E.  

Human Molecular Genetics, Vol. 11, Iss. 19, 2002-07 ,pp. : 2331-2339

Oxford University Press

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