Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

By Wurm Donald   Hänsgen Andrea   Kim Yoo-Jin   Lindinger Angelika   Baghai Ali   Gortner Ludwig  

European Journal of Pediatrics, Vol. 166, Iss. 4, 2007-04 ,pp. : 377-378

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Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

By Thompson Dorothy   Lyons Ruth   Russell-Eggitt Isabelle   Liasis Alki   Jägle Herbert   Grünewald Stephanie  

Journal of Inherited Metabolic Disease, Vol. 36, Iss. 6, 2013-11 ,pp. : 1039-1047

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Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

By Thong M.   Fietz M.   Nicholls C.   Lee M.   Asma O.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 41-44

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A new case of ALG8 deficiency (CDG Ih)

By Vesela K.   Honzik T.   Hansikova H.   Haeuptle M.   Semberova J.   Stranak Z.   Hennet T.   Zeman J.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 259-264

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CDG – an update

By Morava Eva   Lefeber Dirk  

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