(+39) 051 4841310 contatti@simmesn.it

Publications

List of articles in category Documenti
Title	Published Date
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study	07-05-2025
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study	16-12-2024
Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients	25-10-2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector	14-06-2024
Methylmalonic acidemia triggers lysosomalautophagy dysfunctions	14-06-2024
Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers	14-06-2024
Are Phe-Free Protein Substitutes Available in Italy for Infants with PKUAll the Same?	21-03-2024
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice	09-01-2024
Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review	08-01-2024
Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation	11-07-2023

Page 1 of 4