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.
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.
Erythropoietic protoporphyrias: updates and advances
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran
Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
Liver Transplantation for Acute Intermittent Porphyria
Functional assessment and phenotypic heterogeneity of<i>SFTPA1</i>and<i>SFTPA2</i>mutations in interstitial lung diseases and lung cancer
TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
<i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1.
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver
Mutation in human <i>CLPX</i> elevates levels of <i>δ-</i> aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria
Germline<i>SFTPA1</i>mutation in familial idiopathic interstitial pneumonia and lung cancer
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to<i>PRKAG2</i>mutations
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome