Concepedia

Miriam Rigoldi

MR

Statistics

Publications

28

Citations

1.2K

H-Index

22

Active since

2001

Affiliations

Azienda Ospedaliera San Gerardo(Current)

University of Milano-Bicocca

Meyer Children's Hospital

University of Florence

Federico II University Hospital

Miriam Rigoldi is an author at Azienda Ospedaliera San Gerardo specializing in life sciences, medical genetics, and molecular genetics.

ORCID

Publications per year

2001–2023

28

Publications

28

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 · 146 citations

, , +17

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 · 96 citations

, , +8

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 · 80 citations · Full text

, , +17

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 · 79 citations · Full text

, , +16

Genotype-phenotype correlation in Pompe disease, a step forward

Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia et al. · Orphanet Journal of Rare Diseases · 2014 · 66 citations · Full text

, , +17

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