Roberta Taurisano

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Rossella Parini, Paola De Lorenzo, Andrea Dardis et al. · Orphanet Journal of Rare Diseases · 2018 · 89 citations · Full text

Medicine, Immunology, Pediatrics +11

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

Sara Boenzi, Federica Deodato, Roberta Taurisano et al. · Journal of Lipid Research · 2016 · 75 citations · Full text

Life Sciences, Biochemistry, Medical Genetics +15

A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease

Sara Boenzi, Federica Deodato, Roberta Taurisano et al. · Clinica Chimica Acta · 2014 · 71 citations

Life Sciences, Biochemistry, Analytical Chemistry +10

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency

Federica Deodato, Sara Boenzi, Roberta Taurisano et al. · Clinica Chimica Acta · 2018 · 58 citations

Life Sciences, Biochemistry, Molecular Medicine +16

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the <i>FGD1</i> gene

Alfredo Orrico, Lucia Galli, Laurence Faivre et al. · American Journal of Medical Genetics Part A · 2010 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17