Veronica Pagliardini

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 21 publications

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.

Journal: International journal of molecular sciences

Published: December 20, 2025

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

Journal: American journal of medical genetics. Part A

Published: October 02, 2025

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Journal: International journal of molecular sciences

Published: February 10, 2025

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.

Journal: Orphanet journal of rare diseases

Published: December 26, 2023

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.

Journal: Cancers

Published: November 11, 2018

Early higher dosage of alglucosidase alpha in classic Pompe disease.

Early higher dosage of alglucosidase alpha in classic Pompe disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 30, 2018

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.

Journal: Nephrology (Carlton, Vic.)

Published: May 25, 2018

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 05, 2018

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Journal: Orphanet journal of rare diseases

Published: October 30, 2017

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Journal: Molecular genetics and metabolism reports

Published: July 20, 2017

Metabolic progression to clinical phenotype in classic Fabry disease.

Metabolic progression to clinical phenotype in classic Fabry disease.

Journal: Italian journal of pediatrics

Published: September 22, 2016

Vitamin D levels at birth and risk of type 1 diabetes in childhood: a case-control study.

Vitamin D levels at birth and risk of type 1 diabetes in childhood: a case-control study.

Journal: Acta diabetologica

Published: February 14, 2015

Showing 1-12 of 21

Last Updated: 09/26/2026