Marzia Pasquali

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis

Judith Simcox, Gisela Geoghegan, J. Alan Maschek et al. · Cell Metabolism · 2017 · 269 citations · Full text

Lipid Analysis, Metabolic Syndrome, Energy Metabolism +10

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 233 citations

Vitamin Nutrition, Genetic Disorder, Genetics +10

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Virginia Kimonis, Sarju Mehta, Erin Fulchiero et al. · American Journal of Medical Genetics Part A · 2008 · 173 citations · Full text

Analysis of plasma amino acids by HPLC with photodiode array and fluorescence detection

Elisabeth L. Schwarz, William L. Roberts, Marzia Pasquali · Clinica Chimica Acta · 2004 · 141 citations

Fluorescence Detection, Engineering, Analytical Instrumentation +12