Laura Rubert

Verona, Italy

Last Updated: 09/26/2026

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Found 13 publications

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 31, 2025

A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review.

A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review.

Journal: Children (Basel, Switzerland)

Published: February 05, 2025

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Journal: European review for medical and pharmacological sciences

Published: August 02, 2022

Bone disease in early detected Gaucher Type I disease: A case report.

Bone disease in early detected Gaucher Type I disease: A case report.

Journal: JIMD reports

Published: March 30, 2022

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature.

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature.

Journal: Molecular genetics and metabolism reports

Published: February 18, 2022

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Journal: Biomolecules

Published: May 25, 2021

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Journal: International journal of neonatal screening

Published: October 12, 2020

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.

Journal: Frontiers in neurology

Published: June 04, 2020

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.

Journal: Clinical chemistry and laboratory medicine

Published: January 17, 2020

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

Journal: International journal of neonatal screening

Published: April 09, 2019

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Journal: Clinical chemistry and laboratory medicine

Published: December 06, 2018

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Journal: Scientific reports

Published: April 13, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026