List of works - Nathalie Seta

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

scientific article

A Cause of Permanent Ketosis: GLUT-1 Deficiency

scientific article published on 26 September 2014

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

scientific article

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

scientific article published on 24 June 2016

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

scientific article

A model of human nasal epithelial cells adapted for direct and repeated exposure to airborne pollutants

scientific article

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

A new insight into PMM2 mutations in the French population

scientific article published on 01 May 2005

A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings

scientific article published on 26 April 2006

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

scientific article

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

scientific article published on 10 June 2016

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

scientific article published on 27 February 2016

Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.

scientific article

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

scientific article published on December 2010

Acute renal failure after treatment of a wound using sucrose

scientific article published on 01 February 1989

Allergic sensitisation in early childhood: Patterns and related factors in PARIS birth cohort

scientific article

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

scientific article published on 01 March 1999

An in vitro model to evaluate the inflammatory response after gaseous formaldehyde exposure of lung epithelial cells

scientific article published on 10 March 2010

Arsenic urinary concentrations in children living in a naturally arsenic contaminated area

scientific article published on 18 July 2012

Asialoglycoprotein receptor in human isolated hepatocytes from normal liver and its apparent increase in liver with histological alterations.

scientific article published on November 1991

Assessment and predictor determination of indoor aldehyde levels in Paris newborn babies' homes

scientific article

Carbohydrate-deficient glycoprotein syndrome and glycosylation of N-glycoproteins

scientific article published on 01 January 1999

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

scientific article published on 07 September 2009

Catalase activity, allelic variations in the catalase gene and risk of kidney complications in patients with type 1 diabetes

scientific article published on 21 September 2013

Cell surface carbohydrates of rat alveolar type II cells in primary culture

scientific article published on 01 February 1993

Changes in alpha 1-acid glycoprotein serum concentrations and glycoforms in the developing human fetus

scientific article published on 01 December 1991

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

scientific article published on 27 September 2017

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

scientific article published on 9 February 2012

Comparison of glycan microheterogeneities of alpha 1-acid glycoprotein between mothers and their newborns

scientific article published on 01 January 1989

Compartmentalized IL-8 and elastase release within the human lung in unilateral pneumonia

scientific article published on 01 January 1996

Compartmentalized cytokine production within the human lung in unilateral pneumonia

scientific article published on 01 September 1994

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

scientific article published on 01 January 2001

Congenital disorders of glycosylation

scientific article published in January 2003

Congenital disorders of glycosylation (CDG): Quo vadis?

scientific article published on 24 October 2017

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism ⬇️

scientific article

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

scientific article published on 22 November 2005

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

scientific article

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

scientific article

Defect in N-glycosylation of proteins is tissue-dependent in Congenital Disorders of Glycosylation Ia

scientific article published on 01 December 2000

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

scientific article

Development of liver disease despite mannose treatment in two patients with CDG-Ib.

scientific article

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

scientific article published on 01 October 1996

Dioxins in adipose tissue of non-occupationally exposed persons in France: correlation with individual food exposure

scientific article published in September 2001

Does arsenic in soil contribute to arsenic urinary concentrations in a French population living in a naturally arsenic contaminated area?

scientific article published on 22 September 2010

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

scientific article published in January 2015

Early polysensitization is associated with allergic multimorbidity in PARIS birth cohort infants

scientific article published on 8 August 2016

Effect of the platelet activating factor antagonist BN52021 in rabbits: role in gentamicin nephrotoxicity

scientific article published on 01 September 1994

Effects of diltiazem on netilmicin-induced nephrotoxicity in rabbits

scientific article

Effects of mechanical ventilation on diaphragmatic contractile properties in rats

scientific article published on 01 June 1994

Endothelin-1 secretion by alveolar macrophages in systemic sclerosis

scientific article published on 01 November 1997

Environmental and biological monitoring of exposure to organophosphorus pesticides: application to occupationally and non-occupationally exposed adult populations

scientific article published on 25 January 2006

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

scientific article published on 8 August 2016

Expanding the Spectrum of PMM2-CDG Phenotype

scientific article published on 25 December 2011

Factors influencing the reaction of alpha 1-fetoprotein with concanavalin A and Lens culinaris agglutinin in crossed affinoimmunoelectrophoresis

scientific article published on 01 August 1992

Fluorimetric measurement of plasma alpha-L-fucosidase activity with a centrifugal analyzer: reference values in a healthy French adult population

scientific article published on 01 April 2000

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

scientific article

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

scientific article published on 17 July 2015

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

scientific article

Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia ⬇️

scientific article published on 01 February 2008

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

scientific article

Human Reconstituted Nasal Epithelium, a promising in vitro model to assess impacts of environmental complex mixtures

scientific article published on 26 November 2015

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

scientific article published on 01 September 1999

IL6 and acute phase plasma proteins in peritoneal fluid of women with endometriosis

scientific article

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

scientific article published on 19 May 2016

Identification of a IVS4-58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

scientific article published on 01 May 2000

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

scientific article

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

scientific article

Impact of Mycotoxins Secreted by Aspergillus Molds on the Inflammatory Response of Human Corneal Epithelial Cells

scientific article published on 22 June 2017

In vitro model adapted to the study of skin ageing induced by air pollution

scientific article published on 29 July 2016

Incorporation of amphotericin B (AMB) into liposomes alters AMB-induced acute nephrotoxicity in rabbits

scientific article published on 01 October 1989

Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts

scientific article published in November 2002

Indoor airborne endotoxin assessment in homes of Paris newborn babies

scientific article

Inflammatory response modulation of airway epithelial cells exposed to formaldehyde

scientific article

Interleukin 6 secretion by monocytes and alveolar macrophages in systemic sclerosis with lung involvement

scientific article published on 01 May 1994

Interleukin-8 and neutrophils in systemic sclerosis with lung involvement

scientific article published on 01 November 1994

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

scientific article

Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia

scientific article published on 01 June 2002

Limited protection by small unilamellar liposomes against the renal tubular toxicity induced by repeated amphotericin B infusions in rats

scientific article (publication date: July 1991)

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

scientific article published on 24 March 2015

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

scientific article published on 09 August 2012

Manganese superoxide dismutase (SOD2) polymorphisms, plasma advanced oxidation protein products (AOPP) concentration and risk of kidney complications in subjects with type 1 diabetes

scientific article

Microheterogeneity of the carbohydrate moiety of human alpha 1-acid glycoprotein in two benign liver diseases: alcoholic cirrhosis and acute hepatitis

scientific article published on 01 December 1989

Modifications of concanavalin A patterns of alpha 1-acid glycoprotein and alpha 2-HS glycoprotein in alcoholic liver disease

scientific article published on 01 August 1988

Molecular heterogeneity in fetal forms of type II lissencephaly.

scientific article

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

scientific article (publication date: November 2000)

Nasal inflammation and personal exposure to fine particles PM2.5 in asthmatic children

scientific article

Nasal inflammation induced by a common cold: comparison between controls and patients with nasal polyposis under topical steroid therapy.

scientific article published on April 2007

Nasal lavage as a tool for the assessment of upper-airway inflammation in adults and children

scientific article

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia ⬇️

scientific article published on February 1, 2003

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.

scientific article published on 04 September 2013

Oncostatin M is a potent stimulator of alpha1-antitrypsin secretion in lung epithelial cells: modulation by transforming growth factor-beta and interferon-gamma

scientific journal article

PMM2 intronic branch-site mutations in CDG-Ia

scientific article published on 20 December 2005

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies

scientific article published in January 2010

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

scientific article published on 27 December 2008

Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation

scientific article published on 6 May 2013

Polyclonal antibody-based enzyme-linked immunosorbent assay of alpha 1-acid glycoprotein

scientific article published on 01 April 1990

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies

scientific article published on 14 September 2007

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

scientific article published in November 2002

Sequential air-liquid exposure of human respiratory cells to chemical and biological pollutants

scientific article

Sequential study of serum glycoprotein fucosylation in acute hepatitis

scientific article published on 01 February 1997

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

scientific article published on 22 June 2010

Syndrome d'hypoglycosylation des glycoprotéines sériques

scientific article published on 01 February 2000

The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

scientific article (publication date: 2001)

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

scientific article

Tolerance of once-daily dosing of netilmicin and teicoplanin, alone or in combination, in healthy volunteers

scientific article published on 01 October 1988

Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation

scientific article published on 27 April 2017

Two-dimensional gel electrophoresis of apolipoprotein C-III and other serum glycoproteins for the combined screening of human congenital disorders ofO- andN-glycosylation

Underdiagnosis of mild congenital disorders of glycosylation type Ia

scientific article published on 01 February 2005

Urinary arsenic concentrations and speciation in residents living in an area with naturally contaminated soils

scientific article published on 08 December 2009

[Congenital Disorders of Glycosylation (CDG)]

scientific article published on 01 June 2008

[Failure to thrive and intestinal diseases in congenital disorders of glycosylation]

scientific article published on 01 July 2003

[General population exposure to dioxins, human ubiquitous pollutants]

scientific article published on 01 June 2000

[Genes of alpha-dystroglycanopathies in 2016]

scientific article published on 21 November 2016

[How to describe indoor environment in epidemiological studies dealing with respiratory diseases]

scientific article published on 01 April 2002

[Inherited disorders of protein glycosylation]

scientific article published on 01 March 2004

List of works by Nathalie Seta

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A Cause of Permanent Ketosis: GLUT-1 Deficiency

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

A model of human nasal epithelial cells adapted for direct and repeated exposure to airborne pollutants

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

A new insight into PMM2 mutations in the French population

A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

Acute renal failure after treatment of a wound using sucrose

Allergic sensitisation in early childhood: Patterns and related factors in PARIS birth cohort

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

An in vitro model to evaluate the inflammatory response after gaseous formaldehyde exposure of lung epithelial cells

Arsenic urinary concentrations in children living in a naturally arsenic contaminated area

Asialoglycoprotein receptor in human isolated hepatocytes from normal liver and its apparent increase in liver with histological alterations.

Assessment and predictor determination of indoor aldehyde levels in Paris newborn babies' homes

Carbohydrate-deficient glycoprotein syndrome and glycosylation of N-glycoproteins

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Catalase activity, allelic variations in the catalase gene and risk of kidney complications in patients with type 1 diabetes

Cell surface carbohydrates of rat alveolar type II cells in primary culture

Changes in alpha 1-acid glycoprotein serum concentrations and glycoforms in the developing human fetus

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Comparison of glycan microheterogeneities of alpha 1-acid glycoprotein between mothers and their newborns

Compartmentalized IL-8 and elastase release within the human lung in unilateral pneumonia

Compartmentalized cytokine production within the human lung in unilateral pneumonia

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

Congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG): Quo vadis?

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism ⬇️

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

Defect in N-glycosylation of proteins is tissue-dependent in Congenital Disorders of Glycosylation Ia

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

Development of liver disease despite mannose treatment in two patients with CDG-Ib.

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

Dioxins in adipose tissue of non-occupationally exposed persons in France: correlation with individual food exposure

Does arsenic in soil contribute to arsenic urinary concentrations in a French population living in a naturally arsenic contaminated area?

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

Early polysensitization is associated with allergic multimorbidity in PARIS birth cohort infants

Effect of the platelet activating factor antagonist BN52021 in rabbits: role in gentamicin nephrotoxicity

Effects of diltiazem on netilmicin-induced nephrotoxicity in rabbits

Effects of mechanical ventilation on diaphragmatic contractile properties in rats

Endothelin-1 secretion by alveolar macrophages in systemic sclerosis

Environmental and biological monitoring of exposure to organophosphorus pesticides: application to occupationally and non-occupationally exposed adult populations

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Expanding the Spectrum of PMM2-CDG Phenotype

Factors influencing the reaction of alpha 1-fetoprotein with concanavalin A and Lens culinaris agglutinin in crossed affinoimmunoelectrophoresis

Fluorimetric measurement of plasma alpha-L-fucosidase activity with a centrifugal analyzer: reference values in a healthy French adult population

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia ⬇️

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

Human Reconstituted Nasal Epithelium, a promising in vitro model to assess impacts of environmental complex mixtures

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

IL6 and acute phase plasma proteins in peritoneal fluid of women with endometriosis

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Identification of a IVS4-58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

Impact of Mycotoxins Secreted by Aspergillus Molds on the Inflammatory Response of Human Corneal Epithelial Cells

In vitro model adapted to the study of skin ageing induced by air pollution

Incorporation of amphotericin B (AMB) into liposomes alters AMB-induced acute nephrotoxicity in rabbits

Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts

Indoor airborne endotoxin assessment in homes of Paris newborn babies

Inflammatory response modulation of airway epithelial cells exposed to formaldehyde

Interleukin 6 secretion by monocytes and alveolar macrophages in systemic sclerosis with lung involvement

Interleukin-8 and neutrophils in systemic sclerosis with lung involvement

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia

Limited protection by small unilamellar liposomes against the renal tubular toxicity induced by repeated amphotericin B infusions in rats

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.