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Elisa Sacchetti Selected Research

Yunis Varon syndrome

1/2021A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

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Elisa Sacchetti Research Topics

Disease

1Glycogen Storage Disease Type II (Pompe's Disease)
01/2021
1Glycogen Storage Disease Type IIb
01/2021
1Yunis Varon syndrome
01/2021
1Absent corpus callosum cataract immunodeficiency
01/2021
1Cholestasis
08/2020
1Niemann-Pick Diseases (Niemann Pick Disease)
11/2018
1Kearns-Sayre Syndrome
06/2018
1VLCAD deficiency
06/2018

Drug/Important Bio-Agent (IBA)

2Biomarkers (Surrogate Marker)IBA
01/2021 - 11/2018
1GlycogenIBA
01/2021
1maltoheptaoseIBA
01/2021
17-ketocholesterolIBA
08/2020
1OxysterolsIBA
08/2020
1Mitochondrial DNA (mtDNA)IBA
06/2018