Monique Piraud

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

ESI‐MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode

Monique Piraud, Christine Vianey‐Saban, Konstantinos Pétritis et al. · Rapid Communications in Mass Spectrometry · 2003 · 268 citations

Ion‐pairing reversed‐phase liquid chromatography/electrospray ionization mass spectrometric analysis of 76 underivatized amino acids of biological interest: a new tool for the diagnosis of inherited disorders of amino acid metabolism

Monique Piraud, Christine Vianey‐Saban, Konstantinos Pétritis et al. · Rapid Communications in Mass Spectrometry · 2005 · 172 citations

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer et al. · Molecular Genetics and Metabolism · 2007 · 155 citations

Medical Diagnostics, Pompe Disease, International Consensus Meeting +10

Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes

N. Matthew Ellinwood, Jérôme Ausseil, Nathalie Desmaris et al. · Molecular Therapy · 2010 · 137 citations · Full text