Fernando Scaglia

18PUBLICATIONS
153CO-AUTHORS
Medical infection agents (incl. prions)Medical biochemistry - proteins and peptides (incl. medical proteomics)Gene and molecular therapyMedical mycologyMedical physiology not elsewhere classified
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Publications (18)

|Jun 30, 2026
JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Jun 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

|May 26, 2026
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.

|Apr 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

|Apr 06, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.

Aaron Williams, Kristian Divin, Lindsay C Burrage

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Frequent Collaborators

3 joint publications

Michio Hirano

2 joint publications

Rebecca D Ganetzky

2 joint publications

Michelango Mancuso

2 joint publications

Mark Tarnopolsky