Elena Porcu

Padova, 35128, Italy

Last Updated: 09/26/2026

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Found 38 publications

Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening.

Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening.

Journal: Molecular genetics and metabolism

Published: December 22, 2025

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.

Journal: International journal of neonatal screening

Published: November 16, 2025

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.

Journal: Genetics in medicine open

Published: April 15, 2025

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.

Journal: International journal of neonatal screening

Published: December 11, 2024

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.

Journal: International journal of neonatal screening

Published: November 09, 2024

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.

Journal: Italian journal of pediatrics

Published: May 31, 2024

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Journal: International journal of neonatal screening

Published: November 09, 2023

CD72 is a pan-tumor antigen associated to pediatric acute leukemia.

CD72 is a pan-tumor antigen associated to pediatric acute leukemia.

Journal: Cytometry. Part A : the journal of the International Society for Analytical Cytology

Published: June 14, 2023

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.

Journal: Orphanet journal of rare diseases

Published: May 29, 2023

Newborn Screening for Fabry Disease: Current Status of Knowledge.

Newborn Screening for Fabry Disease: Current Status of Knowledge.

Journal: International journal of neonatal screening

Published: April 03, 2023

Identification of Homoharringtonine as a potent inhibitor of glioblastoma cell proliferation and migration.

Identification of Homoharringtonine as a potent inhibitor of glioblastoma cell proliferation and migration.

Journal: Translational research : the journal of laboratory and clinical medicine

Published: February 03, 2022

Microfluidic Lab-on-a-Chip Based on UHF-Dielectrophoresis for Stemness Phenotype Characterization and Discrimination among Glioblastoma Cells.

Microfluidic Lab-on-a-Chip Based on UHF-Dielectrophoresis for Stemness Phenotype Characterization and Discrimination among Glioblastoma Cells.

Journal: Biosensors

Published: September 15, 2021

Showing 1-12 of 38

Last Updated: 09/26/2026