Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
about
Neutrophils: Between host defence, immune modulation, and tissue injuryGolgi nucleotide sugar transport and leukocyte adhesion deficiency IINeural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.The role of nucleotide sugar transporters in development of eukaryotes.Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.The congenital disorders of glycosylation: a multifaceted group of syndromes.Negative feedback regulation of Wnt signaling via N-linked fucosylation in zebrafish.Infections in patients with inherited defects in phagocytic function.Hematologically important mutations: leukocyte adhesion deficiency (first update).The Drosophila neurally altered carbohydrate mutant has a defective Golgi GDP-fucose transporterLessons from rare maladies: leukocyte adhesion deficiency syndromes.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsCongenital protein hypoglycosylation diseases.Mendelian forms of periodontitis.Human deficiencies of fucosylation and sialylation affecting selectin ligands.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationBiological functions of fucose in mammals.A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc).Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts.Protein O-fucosyltransferase 2 adds O-fucose to thrombospondin type 1 repeats.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.CDG Therapies: From Bench to Bedside.
P2860
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P2860
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
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2002年學術文章
@zh-hant
name
Leukocyte adhesion deficiency ...... enotype/phenotype correlation.
@en
Leukocyte adhesion deficiency
@nl
type
label
Leukocyte adhesion deficiency ...... enotype/phenotype correlation.
@en
Leukocyte adhesion deficiency
@nl
prefLabel
Leukocyte adhesion deficiency ...... enotype/phenotype correlation.
@en
Leukocyte adhesion deficiency
@nl
P2093
P2860
P50
P356
P1476
Leukocyte adhesion deficiency ...... enotype/phenotype correlation.
@en
P2093
Amos Etzioni
Carlos B Hirschberg
Michela Tonetti
Ruth Gershoni-Baruch
P2860
P304
P356
10.1002/AJMG.10423
P577
2002-06-01T00:00:00Z