Monique Piraud
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Metabolism and Genetic Disorders, Trypanosoma species research and implications, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → Multiple Phenotypes in Phosphoglucomutase 1 Deficiency(2014)284 cited
- → 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(2003)270 cited
- → Glucose-6-phosphatase deficiency(2011)241 cited
- → 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(2005)172 cited
- → Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting(2007)155 cited
- → Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes(2010)137 cited
- → TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism(2012)121 cited
- → Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency(2009)115 cited
- → Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice(2012)90 cited
- → A new reversed‐phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatised amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism(2005)87 cited