Anne Barnier

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

Isabelle Chantret, Thierry Dupré, Christophe Delenda et al. · Journal of Biological Chemistry · 2002 · 108 citations · Full text

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

Nathalie Séta, Anne Barnier, Francine Hochedez et al. · Clinica Chimica Acta · 1996 · 63 citations

Glycoproteomics, Medicine, Natural Sciences +7

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

Alexandre Nuzzo, Kévin Guedj, Sonja Curac et al. · Scientific Reports · 2021 · 59 citations · Full text

A new insight into PMM2 mutations in the French population

Christiane Le Bizec, Sandrine Vuillaumier‐Barrot, Anne Barnier et al. · Human Mutation · 2005 · 41 citations

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

Sandrine Vuillaumier‐Barrot, Anne Barnier, Maryvonne Cuer et al. · Human Mutation · 1999 · 38 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +14