Claudia Rossi

28PUBLICATIONS
64CO-AUTHORS
Bioprocessing, bioproduction and bioproductsMedical biochemistry - lipidsInfant and child healthDevelopmental genetics (incl. sex determination)Optical technology
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Publications (28)

|Sep 26, 2026
Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report.

|Jul 27, 2026
Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View.

|Jun 25, 2026
Pycnodysostosis: Report of Two Novel CTSK Variants in a Child.

|Mar 28, 2025
Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.

Claudia Rossi, Daniela Trotta, Rossella Ferrante

|Aug 29, 2024
A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

Rossella Ferrante, Stefano Tumini, Maria Alessandra Saltarelli

|Mar 28, 2024
Brimonidine Eye Drops within the Reach of Children: A Possible Foe.

Daniela Trotta, Mirco Zucchelli, Carmela Salladini

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Frequent Collaborators

16 joint publications

Damiana Pieragostino

14 joint publications

Ilaria Cicalini

9 joint publications

Piero Del Boccio

5 joint publications

Mirco Zucchelli