Giancarlo Parenti

Naples, 80131, Italy

Last Updated: 09/26/2026

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Found 120 publications

Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease.

Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: April 15, 2026

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

Journal: Journal of translational medicine

Published: March 10, 2026

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

Journal: Journal of medicinal chemistry

Published: September 15, 2025

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

Journal: Journal of inherited metabolic disease

Published: September 12, 2025

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Journal: Genes

Published: July 21, 2025

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Journal: Therapeutic advances in rare disease

Published: July 02, 2025

Gene Therapy for Infantile-Onset Pompe's Disease.

Gene Therapy for Infantile-Onset Pompe's Disease.

Journal: The New England journal of medicine

Published: June 25, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Journal: Orphanet journal of rare diseases

Published: April 20, 2025

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.

Journal: Scientific reports

Published: March 26, 2025

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies.

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies.

Journal: Nutrients

Published: March 01, 2025

MiR-21-5p and miR-223-3p as Treatment Response Biomarkers in Pediatric Eosinophilic Esophagitis.

MiR-21-5p and miR-223-3p as Treatment Response Biomarkers in Pediatric Eosinophilic Esophagitis.

Journal: International journal of molecular sciences

Published: January 20, 2025

Showing 1-12 of 120

Last Updated: 09/26/2026