Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Item
http://www.wikidata.org/entity/Q24675360
Biased exon/intron distribution of cryptic and de novo 3' splice sitesALG8-CDG: novel patients and review of the literature.Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation.An evolving view of the eukaryotic oligosaccharyltransferase.The congenital disorders of glycosylation: a multifaceted group of syndromes.Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.A new case of ALG8 deficiency (CDG Ih).Congenital disorders of glycosylation and intellectual disability.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Defective ALG8 causes ALG8-CDG (CDG-1h)Defective ALG8 does not add glucose to the N-glycan precursorAddition of a second glucose to the N-glycan precursor by ALG8
P2860

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Item
http://www.wikidata.org/entity/Q24675360
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@ast
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@en
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@nl
type
label
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@ast
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@en
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@nl
prefLabel
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@ast
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@en
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Clinical and molecular feature ...... Ih (CDG-Ih) (ALG8 deficiency)
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932