Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
about
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.Update and perspectives on congenital disorders of glycosylation.Characterization of a mannose-6-phosphate isomerase from Thermus thermophilus and increased L-ribose production by its R142N mutantCongenital disorders of glycosylation: a review.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.A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.Recent advancements in understanding mammalian O-mannosylation.Clinical utility gene card for: Phosphomannose isomerase deficiency.Defective MPI causes MPI-CDG (CDG-1b)Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Defective MPI does not isomerize Fru6P to Man6PMPI isomerises Fru6P to Man6PA novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.Glycosylation and related congenital defects
P2860
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P2860
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@ast
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@en
Genomic organization of the human phosphomannose isomerase
@nl
type
label
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@ast
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@en
Genomic organization of the human phosphomannose isomerase
@nl
prefLabel
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@ast
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@en
Genomic organization of the human phosphomannose isomerase
@nl
P2093
P2860
P1433
P1476
Genomic organization of the hu ...... lycosylation type Ib (CDG-Ib).
@en
P2093
Adamowicz M
Babovic-Vuksanovic D
Huijmans JG
Marquardt T
Matthijs G
Patterson M
Schollen E
P2860
P304
P356
10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A
P50
P577
2000-09-01T00:00:00Z