Marta Frigeni

4PUBLICATIONS
12CO-AUTHORS
NeurogeneticsMedical infection agents (incl. prions)Infant and child healthImmunogenetics (incl. genetic immunology)
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Publications (4)

|Aug 13, 2026
Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

|Mar 26, 2026
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.

Owen Yu, Christine Moore, Kevin Carratu

|Feb 14, 2022
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.

Abigail Kacpura, Marta Frigeni, Kathryn Gunther

|Sep 02, 2021
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.

Marta Frigeni, David F Rodriguez-Buritica, Heather Saavedra

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Frequent Collaborators

2 joint publications

Kathryn Gunther

1 joint publications

David F Rodriguez-Buritica

1 joint publications

Heather Saavedra

1 joint publications

Paul R Hillman