Consensus clinical management guidelines for Niemann-Pick disease type C
2018 · Orphanet Journal of Rare Diseases · 280 citations
https://doi.org/10.1186/s13023-018-0785-7
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Bruno Bembi
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Bruno Bembi is an academic researcher from University of Udine. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Carbohydrate Chemistry and Synthesis & Cellular transport and secretion. The author has an h-index of 53, co-authored 170 publications.
ORCID: 0000-0003-0486-1329Papers by this author
worksNiemann-Pick type C disease
2002 · Journal of Lipid Research · 73 citations
https://doi.org/10.1194/jlr.m200203-jlr200
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
2021 · Orphanet Journal of Rare Diseases · 62 citations
https://doi.org/10.1186/s13023-021-01842-0
A genetic modifier of symptom onset in Pompe disease
2019 · EBioMedicine · 45 citations
https://doi.org/10.1016/j.ebiom.2019.03.048
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
2016 · Acta Neuropathologica Communications · 36 citations
https://doi.org/10.1186/s40478-016-0325-4
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology
2017 · Molecular Therapy · 33 citations
https://doi.org/10.1016/j.ymthe.2017.05.019
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