Sara Boenzi
Overview
Explore the profile of Sara Boenzi including associated specialties, affiliations and a list of published articles.
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Articles
39
Citations
560
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Recent Articles
1.
Deodato F, Boenzi S, Greco B, Graziosi A, Dionisi-Vici C
Front Pediatr
. 2025 Jan;
12():1518344.
PMID: 39834487
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic...
2.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, et al.
Front Genet
. 2024 Jan;
14:1307934.
PMID: 38239854
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations...
3.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, et al.
Int J Neonatal Screen
. 2022 Aug;
8(3).
PMID: 35997437
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The...
4.
Pietrobattista A, Spada M, Candusso M, Boenzi S, Dionisi-Vici C, Francalanci P, et al.
Pediatr Transplant
. 2022 May;
26(6):e14318.
PMID: 35633129
Background: Cerebrotendinous xanthomatosis (CTX) is a disorder of bile acid (BA) metabolism due to biallelic mutations in CYP27A1. The deposition of cholesterol and cholestanol in multiple tissues results, manifesting as...
5.
Baronio F, Conti F, Miniaci A, Carfagnini F, Di Natale V, Di Donato G, et al.
Mol Genet Metab Rep
. 2022 Mar;
30:100833.
PMID: 35242567
Wolman Disease (WD) is a severe multi-system metabolic disease due to lysosomal acid lipase (LAL) deficiency. We report on a WD infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype...
6.
Taranta A, Elmonem M, Bellomo F, De Leo E, Boenzi S, Janssen M, et al.
Cells
. 2021 Dec;
10(12).
PMID: 34943802
Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure...
7.
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....
8.
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...
9.
Sidorina A, Catesini G, Mortera S, Marzano V, Putignani L, Boenzi S, et al.
J Inherit Metab Dis
. 2020 Dec;
44(3):705-717.
PMID: 33325062
Pompe disease (PD) is caused by deficiency of the enzyme acid α-glucosidase resulting in glycogen accumulation in lysosomes. Clinical symptoms include skeletal myopathy, respiratory failure, and cardiac hypertrophy. We studied...
10.
Maines E, Catesini G, Boenzi S, Mosca A, Candusso M, Dello Strologo L, et al.
J Inherit Metab Dis
. 2020 Jul;
43(6):1173-1185.
PMID: 32681732
Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second-tier test in newborn screening, but its utility for patients monitoring still needs...