Michela Semeraro

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency

Federica Deodato, Sara Boenzi, Roberta Taurisano et al. · Clinica Chimica Acta · 2018 · 54 citations

Acid Sphingomyelinase Deficiency, Translational Medicine, Disease Diagnosis +15

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

Alessia Nasca, Francesca Nardecchia, Anna Commone et al. · Frontiers in Genetics · 2018 · 43 citations · Full text

Genetics, Molecular Biology, Pathology +20

Delineating the neurological phenotype in children with defects in the <scp><i>ECHS1</i></scp> or <scp><i>HIBCH</i></scp> gene

Laura Martí‐Sánchez, Heidy Baide‐Mairena, Anna Marcé‐Grau et al. · Journal of Inherited Metabolic Disease · 2020 · 38 citations

Expanding the molecular diversity and phenotypic spectrum of glycerol 3‐phosphate dehydrogenase 1 deficiency

Carlo Dionisi‐Vici, Eyal Shteyer, Marcello Niceta et al. · Journal of Inherited Metabolic Disease · 2016 · 29 citations

Association between Maternal and Foetal Erythrocyte Fatty Acid Profiles and Birth Weight

Giulia Cinelli, Marta Fabrizi, Lucilla Ravà et al. · Nutrients · 2018 · 24 citations · Full text