Sara Boenzi
Overview
Explore the profile of Sara Boenzi including associated specialties, affiliations and a list of published articles.
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39
Citations
560
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Recent Articles
11.
The contribution of plasma oxysterols in the challenging diagnostic work-up of infantile cholestasis
Pietrobattista A, Veraldi S, Candusso M, Basso M, Liccardo D, Della Corte C, et al.
Clin Chim Acta
. 2020 May;
507:181-186.
PMID: 32353361
Background: Infantile cholestasis (IC) is defined as an impairment of bile production or flow occurring in the first months of life. The diagnostic approach in IC is challenging since the...
12.
Martinelli D, Fiermonte G, Haberle J, Boenzi S, Goffredo B, Travaglini L, et al.
Eur J Hum Genet
. 2020 Apr;
28(7):982-987.
PMID: 32242103
No abstract available.
13.
Boenzi S, Dardis A, Russo P, Bellofatto M, Imbriglio T, Fico T, et al.
J Clin Neurosci
. 2019 Jun;
68:266-267.
PMID: 31221578
Niemann Pick type C (NP-C) is an autosomal recessive neurovisceral lysosomal storage disorder caused by NPC1 and NPC2 gene mutations. We screened for NP-C 24 patients with Progressive Supranuclear Palsy...
14.
Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, et al.
Clin Chim Acta
. 2018 Aug;
486:387-394.
PMID: 30153451
Background: Although representing two distinct disease entities, Niemann-Pick disease type C (NP-C) disease and acid sphingomyelinase deficiency (ASMD) share several phenotypic features. The lack of biomarkers was responsible in the...
15.
Boenzi S, Diodato D
Essays Biochem
. 2018 Jul;
62(3):443-454.
PMID: 29980631
Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs)...
16.
Semeraro M, Boenzi S, Carrozzo R, Diodato D, Martinelli D, Olivieri G, et al.
Clin Chim Acta
. 2018 Mar;
481:156-160.
PMID: 29534959
Single large-scale mitochondrial DNA deletions disorders are classified into three main phenotypes with frequent clinical overlap: Pearson marrow-pancreas syndrome (PMS), Kearns-Sayre syndrome (KSS) and chronic progressive external ophtalmoplegia (PEO). So...
17.
Semeraro M, Rizzo C, Boenzi S, Cappa M, Bertini E, Antonetti G, et al.
Clin Chim Acta
. 2016 May;
458:159-64.
PMID: 27189059
Peroxisomal disorders (PDs) present with wide phenotypic variability. An appropriate diagnosis requires a complete analysis of peroxisomal metabolites. We developed a multiplex LC-MS/MS method, using atmospheric pressure chemical ionization allowing...
18.
Boenzi S, Deodato F, Taurisano R, Goffredo B, Rizzo C, Dionisi-Vici C
J Lipid Res
. 2016 Jan;
57(3):361-7.
PMID: 26733147
Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as...
19.
Martinelli D, Diodato D, Ponzi E, Monne M, Boenzi S, Bertini E, et al.
Orphanet J Rare Dis
. 2015 Apr;
10:29.
PMID: 25874378
Background: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical...
20.
Caterino M, Pastore A, Strozziero M, Di Giovamberardino G, Imperlini E, Scolamiero E, et al.
J Inherit Metab Dis
. 2015 Jan;
38(5):969-79.
PMID: 25585586
Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. Despite a multidrug treatment, the long-term follow-up of early-onset patients is...