Marta Peruzzi

Florence, Italy

Last Updated: 09/26/2026

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Found 9 publications

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Journal: Stem cell research

Published: October 24, 2025

Significance of Serum Oxidative and Antioxidative Status in Congenital Central Hypoventilation Syndrome (CCHS) Patients.

Significance of Serum Oxidative and Antioxidative Status in Congenital Central Hypoventilation Syndrome (CCHS) Patients.

Journal: Antioxidants (Basel, Switzerland)

Published: July 14, 2022

Inter-hospital cardiorespiratory telemonitoring of newborns and infants: a wellworking example of a hub and spoke network.

Inter-hospital cardiorespiratory telemonitoring of newborns and infants: a wellworking example of a hub and spoke network.

Journal: Italian journal of pediatrics

Published: July 01, 2022

Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.

Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.

Journal: Stem cell research

Published: March 19, 2022

Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.

Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.

Journal: Antioxidants (Basel, Switzerland)

Published: February 25, 2022

The multiagency approach to Sudden Unexpected Infant Deaths (SUID): eleven years' experience in the Tuscany Region.

The multiagency approach to Sudden Unexpected Infant Deaths (SUID): eleven years' experience in the Tuscany Region.

Journal: Italian journal of pediatrics

Published: May 19, 2020

Can we still do something-and what? - for a seemingly missing syndrome?: "Yes we can".

Can we still do something-and what? - for a seemingly missing syndrome?: "Yes we can".

Journal: Italian journal of pediatrics

Published: August 19, 2019

Systemic oxidative stress in congenital central hypoventilation syndrome.

Systemic oxidative stress in congenital central hypoventilation syndrome.

Journal: The European respiratory journal

Published: June 12, 2018

Apparent Life-Threatening Events (ALTE): Italian guidelines.

Apparent Life-Threatening Events (ALTE): Italian guidelines.

Journal: Italian journal of pediatrics

Published: May 19, 2017

Showing 1-9 of 9

Last Updated: 09/26/2026