• Home
  • The Society
    • About us
    • What are Inherited Metabolic Disorders
    • What is Neonatal Screening
    • Council members
    • Registration
    • Working groups
    • Honorary members
    • International societies
    • Neonatal Screening Laboratories
    • Diagnostic confirmation laboratories for ENS
    • Neonatal Screening Medical Facilities
    • Official Journal: JIM
  • Training
    • Master’s programmes
    • Schools and courses
  • Archive
    • Legislative acts
    • Council members minutes
    • Working group minutes
    • Technical report
    • Quality control reports
    • Publications
    • Guidelines
    • Scientific contributions
    • Speaker presentations
  • News
    • Updates
    • Job opportunities
    • Scholarships
    • Research calls
    • Press release
  • Events
    • National congresses
    • International congresses
    • Webinar
    • Let’s read
  • External resources
    • Links
    • Links to associations
(+39) 051 4841310 contatti@simmesn.it
  • Español (ES)
  • Italiano
  • English (UK)
  • Members area
SIMMESN SIMMESN SIMMESN
  • Home
  • The Society
    • About us
    • What are Inherited Metabolic Disorders
    • What is Neonatal Screening
    • Council members
    • Registration
    • Working groups
    • Honorary members
    • International societies
    • Neonatal Screening Laboratories
    • Diagnostic confirmation laboratories for ENS
    • Neonatal Screening Medical Facilities
    • Official Journal: JIM
  • Training
    • Master’s programmes
    • Schools and courses
  • Archive
    • Legislative acts
    • Council members minutes
    • Working group minutes
    • Technical report
    • Quality control reports
    • Publications
    • Guidelines
    • Scientific contributions
    • Speaker presentations
  • News
    • Updates
    • Job opportunities
    • Scholarships
    • Research calls
    • Press release
  • Events
    • National congresses
    • International congresses
    • Webinar
    • Let’s read
  • External resources
    • Links
    • Links to associations
SIMMESN SIMMESN SIMMESN
  • Home
  • The Society
    • About us
    • What are Inherited Metabolic Disorders
    • What is Neonatal Screening
    • Council members
    • Registration
    • Working groups
    • Honorary members
    • International societies
    • Neonatal Screening Laboratories
    • Diagnostic confirmation laboratories for ENS
    • Neonatal Screening Medical Facilities
    • Official Journal: JIM
  • Training
    • Master’s programmes
    • Schools and courses
  • Archive
    • Legislative acts
    • Council members minutes
    • Working group minutes
    • Technical report
    • Quality control reports
    • Publications
    • Guidelines
    • Scientific contributions
    • Speaker presentations
  • News
    • Updates
    • Job opportunities
    • Scholarships
    • Research calls
    • Press release
  • Events
    • National congresses
    • International congresses
    • Webinar
    • Let’s read
  • External resources
    • Links
    • Links to associations
  • Archive  / 
  • Publications

Publications

Filters
List of articles in category Pubblicazioni
Title Published Date
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

Page 2 of 4

  • 1
  • 2
  • 3
  • 4

Contacts

  • +39 051 4841310
  • contatti@simmesn.it
  • P.IVA 02676220995

The society

  • The society
  • What are inborn Metabolics Deseases
  • What is Neonatal Screening
  • Council members
  • Working groups
  • International societies
  • Neonatal Screening Laboratories
  • Diagnostic confirmation laboratories
  • Neonatal Screening Medical Facilities

Archive

  • Legislative acts
  • Council members minutes
  • Working groups minutes
  • Techincal report
  • Quality control
  • Publications
  • Guidelines
  • Scientific contributions

Events

  • National congresses
  • International congresses
  • Webinar

Announcements

  • Job opportunities
  • Scholarships
  • Research calls
© 2026 SIMMESN. Website developed by Webtasty.net
  • Cookie policy
  • Privacy Policy