Publications - SIMMESN

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Articles
Title	Published Date
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders	12/06/2026
Perceived severity and parental distress after positive expanded newborn screening: parent–clinician concordance and dyadic processes	29/04/2026
Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry	09/06/2025
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

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