13 results on '"Giugliani, Roberto"'
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2. Amino acids levels and lipid peroxidation in maple syrup urine disease patients
3. Maple syrup urine disease in treated patients: Biochemical and oxidative stress profiles
4. Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent
5. Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease
6. Ontogenetic changes in serum S100B in Down syndrome patients
7. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases
8. S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome
9. Simple and efficient screening of patients with Fabry disease with high resolution melting
10. A useful multi-analyte blood test for cerebrotendinous xanthomatosis
11. Fabry disease: A new approach for the screening of females in high-risk groups
12. Characterization of β-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects
13. Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent.
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