Search Results - "Legnini, Elisa"

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles by Rigon, Laura, Salvalaio, Marika, Pederzoli, Francesca, Legnini, Elisa, Duskey, Jason Thomas, D'Avanzo, Francesca, De Filippis, Concetta, Ruozi, Barbara, Marin, Oriano, Vandelli, Maria Angela, Ottonelli, Ilaria, Scarpa, Maurizio, Tosi, Giovanni, Tomanin, Rosella

“…Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the enzyme iduronate 2-sulfatase (IDS), which leads to the…”
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Newborn Screening for Lysosomal Storage Disorders in Hungary by Wittmann, Judit, Karg, Eszter, Turi, Sàndor, Legnini, Elisa, Wittmann, Gyula, Giese, Anne-Katrin, Lukas, Jan, Gölnitz, Uta, Klingenhäger, Michael, Bodamer, Olaf, Mühl, Adolf, Rolfs, Arndt

“…Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their…”
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A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders by Gucciardi, Antonina, Legnini, Elisa, Di Gangi, Iole Maria, Corbetta, Carlo, Tomanin, Rosella, Scarpa, Maurizio, Giordano, Giuseppe

“…ABSTRACT Lysosomal storage disorders comprise a group of rare genetic diseases in which a deficit of specific hydrolases leads to the storage of undegraded…”
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Analysis of lyso-globotriaosylsphingosine in dried blood spots by Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A

“…Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry…”
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Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry by Legnini, Elisa, Orsini, Joe J, Mühl, Adolf, Johnson, Britt, Dajnoki, Angela, Bodamer, Olaf A

“…Niemann Pick disease (NP) is a rare, lysosomal storage disorder due to deficiency of the intra-lysosomal enzyme acid sphingomyelinase (ASM) resulting in…”
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Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry by Legini, Elisa, Orsini, Joseph J., Hung, Christina, Martin, Monica, Showers, Amanda, Scarpa, Maurizio, Zhang, X Kate, Keutzer, Joan, Mühl, Adolf, Bodamer, Olaf A.

“…Gaucher disease (GD) is due to deficiency of acid-β-glucosidase (ABG) and comprises a clinical spectrum with variable age of onset and severity. We evaluated a…”
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Corrigendum to “Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry” [Clin. Chim. Acta 412 (2011) 343–346] by Legnini, Elisa, Orsini, Joseph J., Hung, Christina, Martin, Monica, Showers, Amanda, Scarpa, Maurizio, Zhang, X. Kate, Keutzer, Joan, Mühl, Adolf, Bodamer, Olaf A.

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