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  1. 1
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    Clinical and biochemical footprints of congenital disorders of glycosylation: proposed nosology by Ng, Bobby (Author) , Freeze, Hudson H. (Author) , Himmelreich, Nastassja (Author) , Blau, Nenad (Author) , Ferreira, Carlos R. (Author) ,


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    The metabolic map into the pathomechanism and treatment of PGM1-CDG by Radenkovic, Silvia (Author) , Himmelreich, Nastassja (Author) , Thiel, Christian (Author) ,


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    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa by Van Damme, Tim (Author) , Haußer-Siller, Ingrid (Author) , Thiel, Christian (Author) , Korenke, Christoph (Author) ,


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    Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic) by Miller, Bradley (Author) , Freeze, Hudson H. (Author) , Hoffmann, Georg F. (Author) , Sarafoglou, Kyriakie (Author) ,


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