about
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferaseA deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylationA broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesIdentification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsCongenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphismMutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-IcFour Caucasian patients with mutations in the fukutin gene and variable clinical phenotypeLimited protection by small unilamellar liposomes against the renal tubular toxicity induced by repeated amphotericin B infusions in ratsEffects of diltiazem on netilmicin-induced nephrotoxicity in rabbitsOncostatin M is a potent stimulator of alpha1-antitrypsin secretion in lung epithelial cells: modulation by transforming growth factor-beta and interferon-gammaA rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis.Manganese superoxide dismutase (SOD2) polymorphisms, plasma advanced oxidation protein products (AOPP) concentration and risk of kidney complications in subjects with type 1 diabetes.Assessment and predictor determination of indoor aldehyde levels in Paris newborn babies' homes.Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeDevelopment of liver disease despite mannose treatment in two patients with CDG-Ib.Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityNasal inflammation induced by a common cold: comparison between controls and patients with nasal polyposis under topical steroid therapy.Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?Impact of Mycotoxins Secreted by Aspergillus Molds on the Inflammatory Response of Human Corneal Epithelial CellsA model of human nasal epithelial cells adapted for direct and repeated exposure to airborne pollutants.Inflammatory response modulation of airway epithelial cells exposed to formaldehyde.Sequential air-liquid exposure of human respiratory cells to chemical and biological pollutants.Early polysensitization is associated with allergic multimorbidity in PARIS birth cohort infants.ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.An in vitro model to evaluate the inflammatory response after gaseous formaldehyde exposure of lung epithelial cells.Nasal inflammation and personal exposure to fine particles PM2.5 in asthmatic children.Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.Allergic sensitisation in early childhood: Patterns and related factors in PARIS birth cohort.From splitting GLUT1 deficiency syndromes to overlapping phenotypes.Asialoglycoprotein receptor in human isolated hepatocytes from normal liver and its apparent increase in liver with histological alterations.
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Nathalie Seta
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Nathalie Seta
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Nathalie Seta
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Nathalie Seta
@nl
Nathalie Seta
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type
label
Nathalie Seta
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Nathalie Seta
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Nathalie Seta
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Nathalie Seta
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Nathalie Seta
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prefLabel
Nathalie Seta
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Nathalie Seta
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Nathalie Seta
@es
Nathalie Seta
@nl
Nathalie Seta
@sl
P106
P21
P31
P496
0000-0002-9240-8630