Publications by authors named "G Parenti"

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Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.
Mariagrazia Turturo, Alessandro Rossi, Ferdinando Barretta, Lucia Albano, Daniela Crisci, Giancarlo Parenti

Orphanet J Rare Dis· November 2025

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Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Marco Spada, Serena Gasperini, Massimiliano Filosto, Guja Astrea, Beatrice Bracci, Giancarlo Parenti

Orphanet J Rare Dis· November 2025

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-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.
Anaïs Vieira Da Cruz, Valentine Perraudin, Nadia Minopoli, Roberta Iacono, Véronique Roig-Zamboni, Giancarlo Parenti

J Med Chem· September 2025

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Variants in Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.
Ferdinando Barretta, Fabiana Uomo, Alessandra Verde, Mariagrazia Fisco, Giovanna Gallo, Giancarlo Parenti

Genes (Basel)· August 2025

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Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.
Francesca Pirozzi, Ramin Amiri, Camilla Luni, Alessandro Rossi, Daniela Melis, Giancarlo Parenti

Sci Rep· July 2025

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