Daniela Ombrone

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

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

Emanuela Scolamiero, Carla Cozzolino, Lucia Albano et al. · Molecular BioSystems · 2015 · 105 citations

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca et al. · Molecular Therapy · 2014 · 88 citations · Full text

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere et al. · Journal of Allergy and Clinical Immunology · 2012 · 69 citations · Full text

Signal Transduction, Medicine, Immunology +5

Development of an UPLC–MS/MS method for the determination of antibiotic ertapenem on dried blood spots

Giancarlo la Marca, Elisa Giocaliere, Fabio Villanelli et al. · Journal of Pharmaceutical and Biomedical Analysis · 2011 · 56 citations · Full text

Antimicrobial Chemotherapy, Dried Blood Spots, Bioanalysis +16