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

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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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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

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

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

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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

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