Annalisa Sechi

Outcome of adult patients with X‐linked hypophosphatemia caused by <i>PHEX</i> gene mutations

Douglas Chesher, Michael Oddy, Ulpee Darbar et al. · Journal of Inherited Metabolic Disease · 2018 · 131 citations · Full text

Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience

Annalisa Sechi, Daniela Macor, Serena Valent et al. · Molecular Genetics and Metabolism · 2020 · 56 citations · Full text

Disease Management, First Italian Experience, Covid-19 Pandemic +6

Low molecular weight proteins in urines from healthy subjects as well as diabetic, nephropathic and diabetic‐nephropathic patients: a MALDI study

Annunziata Lapolla, Roberta Seraglia, Laura Molin et al. · Journal of Mass Spectrometry · 2009 · 49 citations

Healthy Subjects, Renal Pathology, Pathology +22

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

Milena Romanello, Stefania Zampieri, Nadia Bortolotti et al. · Clinica Chimica Acta · 2016 · 45 citations

Niemann-pick Disease, Italian Cohort, Inherited Metabolic Disease +4

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

Andrea Dardis, Stefania Zampieri, Cinzia Gellera et al. · Journal of Clinical Medicine · 2020 · 41 citations · Full text