Concepedia

Sara Boenzi

SB

Statistics

Publications

29

Citations

993

H-Index

21

Active since

2002

Affiliations

Bambino Gesù Children's Hospital(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Meyer Children's Hospital

University of Florence

Women's and Children's Hospital

Sara Boenzi is an author at Bambino Gesù Children's Hospital specializing in medicine, biochemistry, and pathology.

ORCID

Top concepts

Publications per year

2002–2022

29

Publications

29

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 · 72 citations · Full text

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 · 70 citations

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Glutathione metabolism in cobalamin deficiency type C (cblC)

Anna Pastore, Diego Martinelli, Fiorella Piemonte et al. · Journal of Inherited Metabolic Disease · 2013 · 59 citations

Understanding pyrroline‐5‐carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure‐based analysis, and novel therapy with arginine

Diego Martinelli, Johannes Häberle, Vicente Rubio et al. · Journal of Inherited Metabolic Disease · 2011 · 59 citations

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 · 54 citations

, , +15

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