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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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

By Kjaergaard S.  

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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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

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