Elena Procopio

9PUBLICATIONS
66CO-AUTHORS
Cellular nervous systemMedical infection agents (incl. prions)Medical biochemistry - lipidsCancer geneticsInfant and child health
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Publications (9)

|Sep 06, 2026
Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.

|Oct 16, 2025
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Donatella Gilio, Caterina Pelosini, Silvia Magno

|Nov 27, 2024
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.

Giancarlo Castaman, Silvia Linari, Antonio Barbato

|Aug 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Alessandro Barbato, Giulia Gori, Michele Sacchini

|Jul 25, 2023
Communicating a Positive Result at Newborn Screening and Parental Distress.

Elisa Lastrucci, Marta Daniotti, Elena Procopio

|Feb 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Annalisa Vetro, Tiziana Pisano, Silvia Chiaro

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Frequent Collaborators

3 joint publications

Renzo Guerrini

2 joint publications

R Manara

2 joint publications

M C Rocco

2 joint publications

L D'agata