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Thierry Dupre

Research Profile

Disorders

Congenital Disorders of Glycosylation

Chemicals & Drugs

Phenomena

Living Beings

Siblings

Physiology

Anatomy

Concepts & Ideas

Procedures

Reverse Transcriptase Polymerase Chain Reaction

Genes & Molecular Sequences

Amino Acid Sequences

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Publications

TOP 3
Julia Dancourt; Sandrine Vuillaumier-Barrot; Helene Ogier de Baulny; Ignacio Sfaello; Anne Barnier; Christiane Le Bizec; Thierry Dupre; Geneviève Durand; Nathalie Seta; Stuart Moore
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Thierry Dupre; Maryvonne Cuer; S Barrot; Anne Barnier; V Cormier-Daire; A Munnich; Geneviève Durand; Nathalie Seta
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Thierry Dupre; Eric Ogier-Denis; Stuart Moore; V Cormier-Daire; Monique Dehoux; Geneviève Durand; Nathalie Seta; Patrice Codogno
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.

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All Publications

2006: Julia Dancourt; Sandrine Vuillaumier-Barrot; Helene Ogier de Baulny; Ignacio Sfaello; Anne Barnier; Christiane Le Bizec; Thierry Dupre; Geneviève Durand; Nathalie Seta; Stuart Moore
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Pediatric research 2006;59(6):835-9.
2001: Thierry Dupre; Maryvonne Cuer; S Barrot; Anne Barnier; V Cormier-Daire; A Munnich; Geneviève Durand; Nathalie Seta
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Clinical chemistry 2001;47(1):132-4.
1999: Thierry Dupre; Eric Ogier-Denis; Stuart Moore; V Cormier-Daire; Monique Dehoux; Geneviève Durand; Nathalie Seta; Patrice Codogno
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.
Biochimica et biophysica acta 1999;1453(3):369-77.

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