Maurizio Scarpa
Overview
Explore the profile of Maurizio Scarpa including associated specialties, affiliations and a list of published articles.
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Articles
141
Citations
2726
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0
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Recent Articles
1.
Castaman G, Linari S, Barbato A, Costantino N, Dionisi-Vici C, Menni F, et al.
J Clin Med
. 2024 Nov;
13(22).
PMID: 39598125
Lysosomal storage diseases (LSDs) are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by the intralysosomal accumulation of undegraded substrates, resulting in the...
2.
Wiesinger A, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, et al.
J Inherit Metab Dis
. 2024 Nov;
48(1):e12816.
PMID: 39572375
Mucopolysaccharidosis (MPS) encompasses a group of genetic lysosomal storage disorders, linked to reduced life expectancy and a significant lack of effective treatment options. Immunomodulatory drugs could have the potential to...
3.
Colucci F, Dardis A, Pavan E, Scarpa M, Gozzi A, Antenucci P, et al.
Mov Disord Clin Pract
. 2024 Nov;
12(2):231-235.
PMID: 39512127
No abstract available.
4.
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, et al.
Orphanet J Rare Dis
. 2024 Nov;
19(1):408.
PMID: 39482698
Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we...
5.
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
Muenzer J, Amartino H, Burton B, Scarpa M, Tylki-Szymanska A, Audi J, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108576.
PMID: 39303318
Purpose: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry....
6.
Sechi A, Urban M, Murphy E, Pession A, Scarpa M
Nutr Metab Cardiovasc Dis
. 2024 Aug;
34(11):2440-2445.
PMID: 39174424
Inherited metabolic disorders (IMDs), previously considered as a paediatric sub-specialisation are more and more prevalent in adults, thanks to improved survival, and the expansion of diagnostic tools detecting attenuated-late onset...
7.
Guffon N, Burton B, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez M, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108519.
PMID: 39024860
Introduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices...
8.
Begley D, Gabathuler R, Pastores G, Garcia-Cazorla A, Ardigo D, Scarpa M, et al.
Expert Opin Drug Deliv
. 2024 Jul;
21(6):817-828.
PMID: 38963225
Introduction: Neurometabolic disorders remain challenging to treat, largely due to the limited availability of drugs that can cross the blood-brain barrier (BBB) and effectively target brain impairment. Key reasons for...
9.
Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, et al.
Int J Mol Sci
. 2024 Jun;
25(12).
PMID: 38928321
Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of prosaposin (encoded...
10.
Mengel E, Scarpa M, Guffon N, Jones S, Goriya V, Msihid J, et al.
Eur J Med Genet
. 2024 Jun;
70():104954.
PMID: 38852770
Acid sphingomyelinase deficiency (ASMD) is a rare, lysosomal storage disease with limited evidence on its natural history. This retrospective, medical record abstraction study aimed to characterize the natural history of...