Caterina Aurizi

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši et al. · European Journal of Human Genetics · 2015 · 102 citations · Full text

Genetic Disorder, Alkaptonuria Patients, Genetics +8

Efficacy of the melanocortin analogue Nle4‐D‐Phe7‐α‐melanocyte‐stimulating hormone in the treatment of patients with Hailey–Hailey disease

G. Biolcati, Caterina Aurizi, Luca Barbieri et al. · Clinical and Experimental Dermatology · 2013 · 36 citations · Full text

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes

Francesca Clementina Radio, Silvia Majore, Caterina Aurizi et al. · Blood Cells Molecules and Diseases · 2015 · 33 citations

Allelic Variant, Genetic Disorder, Genetics +12

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity

Jasmin Barman‐Aksözen, Domenico Girelli, Caterina Aurizi et al. · Journal of Inherited Metabolic Disease · 2017 · 28 citations

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria

Caterina Aurizi, Xiaoye Schneider‐Yin, Fiammetta Sorge et al. · Molecular Genetics and Metabolism · 2006 · 18 citations

Biology, Medicine, Genetics +7