Rosalia M. Da Riol

Udine, Italy

Last Updated: 09/26/2026

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Found 9 publications

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Journal: Molecular genetics and metabolism

Published: March 17, 2025

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).

Journal: Journal of clinical medicine

Published: September 27, 2021

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.

Journal: Journal of inherited metabolic disease

Published: January 21, 2021

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.

Journal: Molecular genetics and metabolism reports

Published: October 16, 2020

Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.

Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.

Journal: Molecular genetics and metabolism

Published: April 24, 2020

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Journal: Italian journal of pediatrics

Published: January 14, 2020

Vitamin D deficiency in a population of migrant children: an Italian retrospective cross-sectional multicentric study.

Vitamin D deficiency in a population of migrant children: an Italian retrospective cross-sectional multicentric study.

Journal: European journal of public health

Published: October 11, 2019

Physical examination instead of laboratory tests for most infants born to mothers colonized with group B Streptococcus: support for the Centers for Disease Control and Prevention's 2010 recommendations.

Physical examination instead of laboratory tests for most infants born to mothers colonized with group B Streptococcus: support for the Centers for Disease Control and Prevention's 2010 recommendations.

Journal: The Journal of pediatrics

Published: July 17, 2012

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Last Updated: 09/26/2026