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

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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

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Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 599-604

Oxford University Press

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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 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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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

By Imbach Timo   Grünewald Stephanie   Schenk Barbara   Burda Patricie   Schollen Els   Wevers Ron A.   Jaeken Jaak   de Klerk Johannis B.C.   Berger Eric G.   Matthijs Gert   Aebi Markus   Hennet Thierry  

Human Genetics, Vol. 106, Iss. 5, 2000-05 ,pp. : 538-545

Springer Publishing Company

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