Elisabetta Pasquini

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 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Elena Mazzone, Diego Martinelli, Angela Berardinelli et al. · Neuromuscular Disorders · 2010 · 215 citations

Medicine, Pediatrics, Physical Medicine +14

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 157 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Claudio Bruno, O. P. van Diggelen, Denise Cassandrini et al. · Neurology · 2004 · 132 citations

Life Sciences, Genetics, Molecular Genetics +17

Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry

Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini et al. · Clinical Chemistry · 2007 · 132 citations · Full text

Pharmacy, Biochemistry, Chromatographic Analysis +15