Antonia Assunto
Via S. Pansini 5
Naples, Italy
Naples, Italy
Last Updated: 09/26/2026
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Found 8 publications
TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.
Journal: Journal of translational medicine
Published: March 10, 2026
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Journal: Journal of inherited metabolic disease
Published: September 12, 2025
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb.
Journal: Molecular genetics and metabolism reports
Published: October 12, 2021
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity.
Journal: Scientific reports
Published: August 06, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Journal: Clinical genetics
Published: April 26, 2021
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Journal: Orphanet journal of rare diseases
Published: April 19, 2021
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Journal: Orphanet journal of rare diseases
Published: June 08, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026