Search Results - Anna Commone

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  1. 1

    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration by Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi

    Published in Frontiers in Genetics (2018-12-01)
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  2. 2

    Newborn Screening for Fabry Disease: Current Status of Knowledge by Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B. Burlina

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  3. 3

    Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease by Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici

    Published in Orphanet Journal of Rare Diseases (2024-01-01)
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  4. 4

    Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy by Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina

    Published in Orphanet Journal of Rare Diseases (2023-11-01)
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  5. 5

    Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA by Sofia Maria Carlotta Arnaboldi, Sofia Maria Carlotta Arnaboldi, Martha Caterina Faraguna, Martha Caterina Faraguna, Antonella Colombini, Alessandra Sala, Veronica Leoni, Marco Spinelli, Giacomo Gotti, Laura Rachele Bettini, Laura Rachele Bettini, Viola Crescitelli, Anna Commone, Serena Gasperini, Carmelo Rizzari, Carmelo Rizzari

    Published in Frontiers in Pediatrics (2025-09-01)
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