Federica Deodato

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald et al. · Brain · 2007 · 204 citations · Full text

Genetics, Pathology, Molecular Biology +20

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 165 citations · Full text

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Rossella Parini, Paola De Lorenzo, Andrea Dardis et al. · Orphanet Journal of Rare Diseases · 2018 · 88 citations · Full text

Efficacy and safety of arimoclomol in <scp>Niemann‐Pick</scp> disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Eugen Mengel, Marc C. Patterson, Rosalia Maria Da Riol et al. · Journal of Inherited Metabolic Disease · 2021 · 86 citations · Full text

Clinical Neurology, Cardiovascular Pharmacology, Neurochemical Biomarkers +22

Identification of novel mutations in the<i>SLC25A15</i>gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi‐Vici et al. · Human Mutation · 2009 · 74 citations