Miriam Rigoldi

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

Mathilde Di Filippo, Philippe Moulin, Pascal Roy et al. · Journal of Hepatology · 2014 · 140 citations

Metabolic Syndrome, Metabolic Disorder, Genetics +14

Long‐term observational, non‐randomized study of enzyme replacement therapy in late‐onset glycogenosis type II

Bruno Bembi, Federica Pisa, Marco Confalonieri et al. · Journal of Inherited Metabolic Disease · 2010 · 94 citations

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

Francesca Bertola, Mirella Filocamo, Giorgio Casati et al. · Human Mutation · 2011 · 79 citations · Full text

Engineering, Idua Mutational Profiling, Genetics +22

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients

Rossella Parini, Miriam Rigoldi, Lucia Tedesco et al. · Molecular Genetics and Metabolism Reports · 2015 · 74 citations · Full text

Genotype-phenotype correlation in Pompe disease, a step forward

Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia et al. · Orphanet Journal of Rare Diseases · 2014 · 62 citations · Full text