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Elena Di Pierro

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Medical Researcher

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Italy

Research Interests

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Professors in Italy Professors in Biochemistry Biochemistry professors in Italy

Recent Grants

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Next-generation sequencing to study the penetrance of dominantly inherited porphyrias

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Genetic study for the diagnosis and treatment of patients with Porphyria

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Articles (15)

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2026

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2023

Collaborators (19)

Daniel Ramon Vidal

Professor Food Technology

Universidad CEU Cardenal Herrera

SPAIN

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Maria J. Moreno-Aliaga

Professor of Human Physiology

Universidad de Navarra

SPAIN

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Janneke Langendonk

Erasmus University Rotterdam

NETHERLANDS

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Andrea Ricci

Ricercatori a tempo determinato

University of Modena and Reggio Emilia

ITALY

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Juan F Martinez-Blanch

University of Valencia

SPAIN

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Antonello Pietrangelo

Docenti di ruolo di Ia fascia

University of Modena and Reggio Emilia

ITALY

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Matias A Avila

Director

Center for Applied Medical Research

SPAIN

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Elena Trombetta

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

ITALY

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Carl Baravelli

Norwegian Institute of Public Health

NORWAY

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Antonio Fontanellas

Universidad de Navarra

SPAIN

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Pauline Harper

Senior consultant, MD, PhD, Associate professor

Karolinska Institutet

SWEDEN

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Sami Mustajoki

Tampere University

FINLAND

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David Cassiman

KU Leuven

BELGIUM

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Edith Friesema

Assistant professor

Erasmus University Rotterdam

NETHERLANDS

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Valentina Brancaleoni

Research Scientist

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

ITALY

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Caroline Schmitt

Associate Professor

INSERM U1148

FRANCE

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Patricia Martorell

Associate proffesor

University of Valencia

SPAIN

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Cristina Vercellati

ricercatore sanitario

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

ITALY

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Paolo Ventura

Full Professor of Internal Medicine

University of Modena and Reggio Emilia

ITALY

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Elena Di Pierro

Research Interests

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Recent Grants

Articles (15)

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

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

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

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

Editorial: Heme physiology and pathology

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

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

Are Mitochondria a Potential Target for Treating β-Thalassemia?

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

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

Editorial on the Special Issue “Heme Metabolism and Porphyria”

The Alpha-Lipoic Acid Improves Glucose Metabolism and Hyperinsulinemia in Acute Intermittent Porphyria: A Nutritional Concept for the Management of Rare Disorders

Nutritional Interventions with Bacillus coagulans Improved Glucose Metabolism and Hyperinsulinemia in Mice with Acute Intermittent Porphyria

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria

Collaborators (19)

Daniel Ramon Vidal

Maria J. Moreno-Aliaga

Janneke Langendonk

Andrea Ricci

Juan F Martinez-Blanch

Antonello Pietrangelo

Matias A Avila

Elena Trombetta

Carl Baravelli

Antonio Fontanellas

Pauline Harper

Sami Mustajoki

David Cassiman

Edith Friesema

Valentina Brancaleoni

Caroline Schmitt

Patricia Martorell

Cristina Vercellati

Paolo Ventura

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