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Marta Frigeni

3PUBLICATIONS

8CO-AUTHORS

Medical infection agents (incl. prions)Infant and child healthImmunogenetics (incl. genetic immunology)

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Publications (3)

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|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

1 joint publications

Hope Northrup

1 joint publications

Abigail Kacpura

1 joint publications

Laura Farach

1 joint publications

Kevin Carratu

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

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