Elisa Sacchetti
Overview
Explore the profile of Elisa Sacchetti including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
72
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0
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Recent Articles
1.
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, et al.
J Inherit Metab Dis
. 2025 Mar;
48(2):e70010.
PMID: 40026238
The human liver plays a central metabolic role; however, its physiology may become imbalanced in inborn errors of metabolism (IEM), a broad category of monogenic disorders. Liver transplantation has been...
2.
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C
Metabolites
. 2024 Aug;
14(8).
PMID: 39195524
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation....
3.
Manoli I, Gebremariam A, McCoy S, Pass A, Gagne J, Hall C, et al.
J Inherit Metab Dis
. 2023 May;
46(4):554-572.
PMID: 37243446
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor,...
4.
Boenzi S, Catesini G, Sacchetti E, Tagliaferri F, Dionisi-Vici C, Deodato F
Mol Genet Metab
. 2021 Nov;
134(4):337-343.
PMID: 34810067
Niemann-Pick C disease (NPC) is a lysosomal disease caused by mutations in NPC1 or NPC2 genes responsible for intracellular accumulation of free cholesterol and glycosphingolipids in a variety of tissues....
5.
Semeraro M, Sacchetti E, Deodato F, Coskun T, Lay I, Catesini G, et al.
Orphanet J Rare Dis
. 2021 Jan;
16(1):24.
PMID: 33422100
Background: Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending...
6.
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...
7.
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...
8.
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...
9.
Pellegrini C, Mercuri P, Celenza G, Galleni M, Segatore B, Sacchetti E, et al.
J Antimicrob Chemother
. 2009 Mar;
63(5):901-8.
PMID: 19270313
Objectives: The aim of the study was the biochemical characterization of a new variant of the metallo-beta-lactamase, IMP-22. Moreover, the genetic environment of the bla(IMP-22) gene was investigated in Pseudomonas...