Area of research
Molecular Biology · Rheumatology
Research interest
Research interests include Porphyrin Metabolism and Disorders, Heme Oxygenase-1 and Carbon Monoxide, Folate and B Vitamins Research, and Neonatal Health and Biochemistry.
New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.
Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry.
Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report.
Hepatocellular Carcinoma in Acute Porphyria: Incidence and Risk Factors.
From chemistry to genomics: A concise history of the porphyrias.
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.
Comment on Ramai et al. Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review. <i>Cancers</i> 2022, <i>14</i>, 2947.
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.
A Drug-Drug Interaction Study Evaluating the Effect of Givosiran, a Small Interfering Ribonucleic Acid, on Cytochrome P450 Activity in the Liver.
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case report.
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria