Carlo Dionisi-Vici Selected Research

Glycogen

1/2023	Pancreatic beta-cell specific BAG3 knockout results in chronic hyperinsulinemia inducing insulin resistance.
3/2022	A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.
1/2021	A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
1/2021	Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
11/2020	Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
3/2016	EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
2/2016	Vici syndrome: a review.

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Carlo Dionisi-Vici Research Topics

Disease

11	Methylmalonic acidemia 01/2023 - 05/2006
11	Hypoglycemia (Reactive Hypoglycemia) 01/2023 - 10/2004
10	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 11/2012
9	Disease Progression 01/2023 - 06/2003
8	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2023 - 09/2014
8	Hyperammonemia 11/2019 - 09/2008
7	Homocystinuria 12/2022 - 04/2008
7	Intellectual Disability (Idiocy) 10/2021 - 03/2013
7	Lactic Acidosis 01/2018 - 08/2006
6	Glycogen Storage Disease (Glycogenosis) 01/2023 - 01/2016
6	Metabolic Diseases (Metabolic Disease) 01/2023 - 08/2006
6	Lysinuric Protein Intolerance 01/2022 - 08/2004
6	Inborn Urea Cycle Disorders 01/2022 - 05/2012
5	Epilepsy (Aura) 01/2023 - 01/2016
5	Argininosuccinic Aciduria 01/2023 - 07/2012
5	Cardiomyopathies (Cardiomyopathy) 01/2022 - 08/2002
5	Methylenetetrahydrofolate reductase deficiency 01/2022 - 01/2016
5	Propionic Acidemia 11/2020 - 09/2014
5	Brain Diseases (Brain Disorder) 01/2016 - 08/2002
4	Ethylmalonic encephalopathy 12/2022 - 02/2004
4	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2021 - 12/2012
4	Glycogen Storage Disease Type II (Pompe's Disease) 01/2021 - 06/2014
4	Niemann-Pick Diseases (Niemann Pick Disease) 09/2020 - 03/2017
4	Deafness (Deaf Mutism) 05/2014 - 03/2007
3	Kearns-Sayre Syndrome 11/2023 - 06/2018
3	Insulin Resistance 01/2023 - 01/2022
3	Non-alcoholic Fatty Liver Disease 01/2023 - 11/2014
3	Cholestasis 01/2022 - 12/2012
3	Liver Failure 01/2022 - 10/2004
3	Congenital Hyperinsulinism 01/2022 - 01/2011
3	Muscular Diseases (Myopathy) 10/2021 - 02/2016
3	Absent corpus callosum cataract immunodeficiency 01/2021 - 02/2012
3	Leigh Disease (Leigh's Disease) 01/2021 - 11/2012
3	Hyperargininemia 01/2019 - 09/2014
3	Peroxisomal Disorders (Peroxisomal Disorder) 07/2016 - 06/2003
3	Infections 02/2016 - 02/2012
3	Muscle Hypotonia (Hypotonia) 01/2016 - 08/2006
3	Tyrosinemias (Tyrosinemia) 01/2013 - 07/2010
2	VLCAD deficiency 11/2023 - 06/2018
2	Hyperinsulinism (Hyperinsulinemia) 01/2023 - 03/2016
2	Chronic Renal Insufficiency 01/2023 - 01/2023
2	Inflammation (Inflammations) 01/2023 - 11/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2022 - 11/2019
2	Wolman Disease (Wolman's Disease) 03/2022 - 03/2016
2	Rare Diseases (Rare Disease) 01/2022 - 11/2021
2	Adult-onset citrullinemia type 2 01/2022 - 01/2009
2	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 01/2022 - 01/2021
2	Due To LAD Deficiency Congenital Infantile Lactic Acidosis 01/2022 - 09/2014
2	Galactosemias (Galactosemia) 01/2022 - 01/2016

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 01/2023 - 02/2004
13	EnzymesIBA 01/2023 - 01/2007
12	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 07/2022 - 05/2006
11	Biomarkers (Surrogate Marker)IBA 01/2023 - 08/2006
8	AcidsIBA 01/2021 - 03/2007
7	GlycogenIBA 01/2023 - 02/2016
6	LipidsIBA 01/2023 - 10/2004
6	Arginine (L-Arginine)FDA Link 01/2023 - 05/2012
6	HomocysteineIBA 12/2022 - 02/2011
6	Fatty Acids (Saturated Fatty Acids)IBA 01/2021 - 06/2003
5	Urea (Carbamide)FDA LinkGeneric 01/2023 - 07/2012
5	Methylmalonic AcidIBA 01/2023 - 03/2007
5	Glucose (Dextrose)FDA LinkGeneric 01/2022 - 01/2011
5	Hypoglycemic Agents (Hypoglycemics)IBA 01/2022 - 08/2002
5	Amino Acids FDA Link 01/2021 - 07/2011
4	Mitochondrial DNA (mtDNA)IBA 11/2023 - 03/2016
4	Methylmalonyl-CoA MutaseIBA 01/2023 - 07/2011
4	CitrullineIBA 01/2022 - 05/2012
4	HHH syndromeIBA 11/2019 - 07/2012
4	OrnithineIBA 01/2019 - 05/2012
4	Carnitine (L-Carnitine)FDA LinkGeneric 11/2009 - 08/2002
3	CarbohydratesIBA 01/2023 - 11/2018
3	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/2023 - 11/2012
3	Insulin (Novolin)FDA Link 01/2023 - 01/2022
3	Betaine (C.B.B.)FDA Link 01/2022 - 02/2011
3	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 09/2012
3	Glutathione (Reduced Glutathione)IBA 12/2020 - 06/2013
3	alpha-tocotrienol quinoneIBA 01/2019 - 11/2012
3	Ammonium CompoundsIBA 07/2018 - 05/2015
3	miglustat (Zavesca)FDA Link 10/2017 - 11/2013
3	Methionine (L-Methionine)FDA Link 03/2016 - 02/2011
3	Dihydroxyphenylalanine (Dopa)IBA 11/2014 - 01/2003
3	CopperIBA 05/2014 - 03/2009
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2023 - 11/2009
2	PropionatesIBA 01/2023 - 01/2020
2	Sulfur Compounds (Compounds, Sulfur)IBA 12/2022 - 11/2014
2	Cysteine (L-Cysteine)FDA Link 12/2022 - 11/2014
2	SulfurIBA 12/2022 - 11/2014
2	Sterol Esterase (Hormone-Sensitive Lipase)IBA 03/2022 - 03/2016
2	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 01/2022 - 01/2016
2	Biotin (Vitamin H)FDA Link 01/2022 - 01/2021
2	BiotinidaseIBA 01/2022 - 01/2021
2	Bile Acids and Salts (Bile Acids)IBA 01/2022 - 07/2016
2	Cystine (L-Cystine)IBA 11/2021 - 02/2014
2	GlucokinaseIBA 10/2021 - 12/2009
2	Tyrosine (L-Tyrosine)FDA Link 10/2021 - 01/2012

Therapy/Procedure

11	Therapeutics 03/2022 - 08/2002
9	Liver Transplantation 01/2023 - 07/2010
4	Ketogenic Diet 10/2021 - 02/2002
3	Transplantation 01/2023 - 11/2020
2	Kidney Transplantation 01/2023 - 01/2021