about
The diagnostic approach to monogenic very early onset inflammatory bowel diseaseDefects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel DiseaseHow genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.Altered expression of Tumor Necrosis Factor Alpha -Induced Protein 3 correlates with disease severity in Ulcerative ColitisTargeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.Molecular modeling in the age of clinical genomics, the enterprise of the next generation.A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.Inhibitor of apoptosis proteins are required for effective fusion of autophagosomes with lysosomes.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
XIAP deficiency is a mendelian cause of late-onset IBD.
@en
XIAP deficiency is a mendelian cause of late-onset IBD.
@nl
type
label
XIAP deficiency is a mendelian cause of late-onset IBD.
@en
XIAP deficiency is a mendelian cause of late-onset IBD.
@nl
prefLabel
XIAP deficiency is a mendelian cause of late-onset IBD.
@en
XIAP deficiency is a mendelian cause of late-onset IBD.
@nl
P2860
P1433
P1476
XIAP deficiency is a mendelian cause of late-onset IBD.
@en
P2860
P304
P356
10.1136/GUTJNL-2013-306474
P407
P577
2013-12-10T00:00:00Z