ALG1-CDG: a new case with early fatal outcome.

A-K Rohlfing,S Rust,J Reunert,M Tirre,I Du Chesne,Sa Wemhoff,F Meinhardt,H Hartmann,A M Das,T Marquardt

Gene（2014）

引用 30|浏览2

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摘要

Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases.

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关键词

ALG1,CDG,GDP,Man,RER,HMT1,GlcNAc,PP,kDa,CDT,IEF,IMPP,SDS,PAGE,HPLC,MEM,PBS,LLO,DMEM,cDNA,EDTA,PCR,dNTP,DMSO,CPAP,CK,CK-MB,CRP,IgG,Glc,CEPH,DPAGT1,IGF1,IGFBP3,ALT,GPT,AST,GOT,GLDH,CHE,AT-III

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