A. Barnier

发表

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.

P. Codogno, V. Cormier-Daire, P. de Lonlay, 2000, Glycobiology.

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

A. Munnich, V. Cormier-Daire, T. Dupré, 2001, Clinical chemistry.

External Evaluation of the Dimension Vista 1500® Intelligent Lab System

A. Boutten, M. Dehoux, A. Bruneel, 2012, Journal of clinical laboratory analysis.

A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings

I. Sfaello, T. Dupré, G. Durand, 2006, Pediatric Research.

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome.

M. Besnard, G. Durand, F. Hochedez, 1996, Clinica chimica acta; international journal of clinical chemistry.

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

J. Saudubray, P. de Lonlay, G. Durand, 2002, Journal of medical genetics.

PMM2 intronic branch-site mutations in CDG-Ia.

P. de Lonlay, G. Durand, S. Vuillaumier‐Barrot, 2006, Molecular Genetics and Metabolism.

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate‐deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

B. Grandchamp, G. Durand, S. Vuillaumier‐Barrot, 1999, Human mutation.

Congenital Disorders of Glycosylation Type Ig Is Defined by a Deficiency in Dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl Mannosyltransferase*

P. Codogno, O. Danos, R. Oriol, 2002, The Journal of Biological Chemistry.

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

G. Durand, N. Seta, P. de la Salmonière, 2000, Clinical chemistry.

A new insight into PMM2 mutations in the French population

G. Durand, S. Vuillaumier‐Barrot, N. Seta, 2005, Human mutation.

Accuracy of citrulline, I-FABP and d-lactate in the diagnosis of acute mesenteric ischemia

S. Msika, Q. Pellenc, Y. Castier, 2021, Scientific Reports.

Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.

G. Durand, S. Vuillaumier‐Barrot, N. Seta, 2002, Clinical chemistry.

Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients

B. Grandchamp, V. Cormier-Daire, P. de Lonlay, 2000, Journal of medical genetics.