Barbara Siri

8PUBLICATIONS
39CO-AUTHORS
Medical biochemistry - amino acids and metabolitesNeurology and neuromuscular diseasesMajor global burdens of diseaseReaction engineering (excl. nuclear reactions)Haematological tumours
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Publications (8)

|Sep 10, 2026
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

|Apr 02, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Alessandra Torraco, Charlotte L Alston, Giulia Barcia

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Jan 08, 2025
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Barbara Siri, Benedetta Greco, Diego Martinelli

|Jan 03, 2024
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri

|Oct 10, 2023
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.

Barbara Siri, Annamaria D'Alessandro, Arianna Maiorana

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Frequent Collaborators

4 joint publications

Diego Martinelli

2 joint publications

Sara Cairoli

2 joint publications

Rosalba Carrozzo

2 joint publications

Carlo Dionisi-Vici