Marie‐Estelle Losfeld

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

The cell surface expressed nucleolin is a glycoprotein that triggers calcium entry into mammalian cells

Marie‐Estelle Losfeld, Diala El Khoury, Pascal Mariot et al. · Experimental Cell Research · 2008 · 82 citations

Calcium Entry, Signal Transduction, Medicine +12

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

Shiteshu Shrimal, Bobby G. Ng, Marie‐Estelle Losfeld et al. · Human Molecular Genetics · 2013 · 81 citations · Full text

Glycoproteomics, Developmental Anomaly, Developmental Biology +15

The Metabolic Origins of Mannose in Glycoproteins

Mie Ichikawa, David A. Scott, Marie‐Estelle Losfeld et al. · Journal of Biological Chemistry · 2014 · 79 citations · Full text

Glycoprotein Degradation, Glycobiology, Polysaccharide +17

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Melanie A. Jones, Bobby Ng, Shruti Bhide et al. · The American Journal of Human Genetics · 2012 · 75 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +11