Publications by authors named "Anna Commone"

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Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.
Sofia Maria Carlotta Arnaboldi, Martha Caterina Faraguna, Antonella Colombini, Alessandra Sala, Veronica Leoni, Anna Commone

Front Pediatr· September 2025

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Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Serena Galosi, Cecilia Mancini, Anna Commone, Paolo Calligari, Viviana Caputo

Mov Disord· July 2024

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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, Martin Poms, Bianca Maria Goffredo, Anna Commone

Orphanet J Rare Dis· January 2024

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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla

Orphanet J Rare Dis· November 2023

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Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Christian Loro

J Pediatr Endocrinol Metab· September 2023

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Newborn Screening for Fabry Disease: Current Status of Knowledge.
Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma

Int J Neonatal Screen· June 2023

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Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.
Vincenza Gragnaniello, Caterina Rizzardi, Anna Commone, Daniela Gueraldi, Evelina Maines

J Clin Med· March 2023

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Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.
Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini

Orphanet J Rare Dis· July 2022

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Clinical and Biochemical Features in a Patient With Gene Alteration.
Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati

Front Genet· December 2018

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