Giorgia Olivieri

Rome, Italy

Last Updated: 09/26/2026

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Found 29 publications

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Journal: Journal of inherited metabolic disease

Published: October 16, 2023

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Journal: Molecular genetics and metabolism

Published: July 13, 2023

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Journal: Orphanet journal of rare diseases

Published: May 10, 2023

The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.

The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.

Journal: Journal of inherited metabolic disease

Published: March 09, 2023

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Journal: Journal of inherited metabolic disease

Published: November 28, 2022

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Journal: Epilepsia

Published: November 02, 2022

The diagnostic challenge of mild citrulline elevation at newborn screening.

The diagnostic challenge of mild citrulline elevation at newborn screening.

Journal: Molecular genetics and metabolism

Published: December 29, 2021

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.

Journal: Orphanet journal of rare diseases

Published: January 18, 2021

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Journal: Human mutation

Published: September 08, 2020

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Journal: Orphanet journal of rare diseases

Published: June 25, 2020

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Journal: Orphanet journal of rare diseases

Published: June 08, 2020

Showing 1-12 of 29

Last Updated: 09/26/2026