Magali Pettazzoni

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake et al. · Orphanet Journal of Rare Diseases · 2023 · 88 citations · Full text

Medicine, Internal Medicine, Pediatrics +13

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

Magali Pettazzoni, Roseline Froissart, Cécile Pagan et al. · PLoS ONE · 2017 · 76 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +16

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

Nathalie Guffon, Magali Pettazzoni, Nicolas Pangaud et al. · Orphanet Journal of Rare Diseases · 2021 · 51 citations · Full text

Medicine, Hematology, Pediatrics +11

Anti-Glucosylsphingosine Autoimmunity, JAK2V617F-Dependent Interleukin-1β and JAK2V617F-Independent Cytokines in Myeloproliferative Neoplasms

Sophie Allain‐Maillet, Adrien Bosseboeuf, Nicolas Mennesson et al. · Cancers · 2020 · 33 citations · Full text

Medicine, Pathobiology, Pathology +13

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

Monique Piraud, Magali Pettazzoni, Marie De Antonio et al. · Molecular Genetics and Metabolism Reports · 2020 · 29 citations · Full text

Life Sciences, Biochemistry, Pathology +17