Rodolfo Tonin Selected Research

Rodolfo Tonin Research Topics

2	GM1 Gangliosidosis (Gangliosidosis GM1) 08/2022 - 11/2019
2	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2021 - 10/2018
2	Neuraminidase deficiency with beta-galactosidase deficiency 11/2019 - 08/2013
1	Amish Infantile Epilepsy Syndrome 05/2024
1	Gaucher Disease (Gaucher's Disease) 01/2024
1	Metabolic Diseases (Metabolic Disease) 12/2023
1	Congenital Disorders of Glycosylation 12/2023
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 12/2020
1	Edema (Dropsy) 01/2020
1	Intellectual Disability (Idiocy) 01/2020
1	Mucolipidoses (Sialidosis) 01/2020
1	Splenomegaly 01/2020
1	Disease Progression 11/2019
1	Uniparental Disomy 10/2018
1	Mucopolysaccharidoses 10/2018
1	Short chain Acyl CoA dehydrogenase deficiency 06/2016
1	Confusion (Bewilderment) 08/2013
1	Lethargy 01/2013
1	Seizures (Absence Seizure) 01/2013
1	Medium chain acyl CoA dehydrogenase deficiency 01/2013

2	RNA (Ribonucleic Acid)IBA 05/2024 - 12/2023
2	Proteins (Proteins, Gene)FDA Link 12/2023 - 08/2013
2	G(M1) GangliosideIBA 08/2022 - 11/2019
2	Neuraminidase (Sialidase)IBA 01/2020 - 08/2013
2	Fatty Acids (Saturated Fatty Acids)IBA 06/2016 - 01/2013
1	Glycoside Hydrolases (Endoglycosidases)IBA 01/2024
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2024
1	Glucosylceramides (Glucocerebrosides)IBA 01/2024
1	LipidsIBA 12/2023
1	beta-Galactosidase (Lactaid)IBA 01/2021
1	EnzymesIBA 12/2020
1	Lysergic Acid Diethylamide (LSD)IBA 01/2020
1	Biomarkers (Surrogate Marker)IBA 11/2019
1	GlycosphingolipidsIBA 11/2019
1	miglustat (Zavesca)FDA Link 11/2019
1	DNA (Deoxyribonucleic Acid)IBA 10/2018
1	Messenger RNA (mRNA)IBA 10/2018
1	Keratan SulfateIBA 10/2018
1	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 06/2016
1	Cathepsin AIBA 08/2013
1	GalactosidasesIBA 08/2013
1	Protein Isoforms (Isoforms)IBA 08/2013
1	5'-deoxy-5'-phosphonomethyladenosine phosphateIBA 08/2013
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2013

1	Drug Therapy (Chemotherapy) 11/2019