Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
about
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
P2860
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@ast
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@en
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@nl
type
label
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@ast
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@en
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@nl
prefLabel
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@ast
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@en
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@nl
P2860
P356
P1476
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
@en
P2093
Dirk Lefeber
Jaak Jaeken
P2860
P2888
P356
10.1038/EJHG.2014.146
P577
2014-07-23T00:00:00Z
P5875
P6179
1003139270