Publicaciones - SIMMESN

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Artículos
Title	Fecha de publicación
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
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study	27/06/2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges	06/04/2023
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient	06/04/2023
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe	23/03/2023
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes	23/03/2023
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm	21/03/2023
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience	21/03/2023

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