Publications by authors named "B Siri"

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Barbara Siri

Brain· November 2025

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Mitochondrial cardiomyopathies: navigating through different clinical and management pictures between adult and paediatric forms.
Rachele Adorisio, Nicoletta Cantarutti, Barbara Siri, Elisa Bellettini, Gessica Ingrasciotta

Front Cardiovasc Med· July 2025

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Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.
Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Barbara Siri

NPJ Metab Health Dis· May 2025

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Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
Barbara Siri, Benedetta Greco, Diego Martinelli, Sara Cairoli, Alessia Guarnera

J Inherit Metab Dis· January 2025

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Severe mitochondrial encephalomyopathy caused by variants in gene.
Michela Di Nottia, Teresa Rizza, Enrico Baruffini, Claudia Nesti, Alessandra Torraco, Barbara Siri

Front Genet· August 2024

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