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 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

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

Life Sciences, Biochemistry, Metabolism +16

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 · 89 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +17

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 · 70 citations · Full text

Life Sciences, Immunology, Molecular Biology +15

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

Medicine, Pharmaceutical Analysis, Pharmacology +13