Elena Di Pierro

Milan, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 50 publications

Integrated enzymatic and molecular diagnosis of G6PD deficiency: a one-year experience identifying five novel variants.

Integrated enzymatic and molecular diagnosis of G6PD deficiency: a one-year experience identifying five novel variants.

Journal: Annals of hematology

Published: April 07, 2026

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.

Journal: Journal of internal medicine

Published: November 21, 2025

Editorial: Heme physiology and pathology.

Editorial: Heme physiology and pathology.

Journal: Frontiers in physiology

Published: October 24, 2025

Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due to ATP11C Mutations.

Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due to ATP11C Mutations.

Journal: International journal of molecular sciences

Published: July 04, 2025

The Relationship Between Non-Transferrin-Bound Iron (NTBI), Labile Plasma Iron (LPI), and Iron Toxicity.

The Relationship Between Non-Transferrin-Bound Iron (NTBI), Labile Plasma Iron (LPI), and Iron Toxicity.

Journal: International journal of molecular sciences

Published: May 30, 2025

Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry.

Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: May 26, 2025

Oral lipoteichoic and lipoic acids improve insulin resistance and body composition in porphyria mice on a high-carbohydrate diet.

Oral lipoteichoic and lipoic acids improve insulin resistance and body composition in porphyria mice on a high-carbohydrate diet.

Journal: Journal of physiology and biochemistry

Published: May 22, 2025

Are Mitochondria a Potential Target for Treating β-Thalassemia?

Are Mitochondria a Potential Target for Treating β-Thalassemia?

Journal: Journal of clinical medicine

Published: December 23, 2024

Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).

Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).

Journal: Nutrition & metabolism

Published: November 14, 2024

Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq.

Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq.

Journal: Hematology (Amsterdam, Netherlands)

Published: September 10, 2024

Recovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report.

Recovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report.

Journal: European review for medical and pharmacological sciences

Published: May 06, 2024

Editorial on the Special Issue "Heme Metabolism and Porphyria".

Editorial on the Special Issue "Heme Metabolism and Porphyria".

Journal: Life (Basel, Switzerland)

Published: March 22, 2024

Showing 1-12 of 50

Last Updated: 09/26/2026