Carlo Dionisi-Vici Selected Research

Kozlowski type Spondylometaphyseal dysplasia

11/2011

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

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Carlo Dionisi-Vici Research Topics

Disease

10	Hypoglycemia (Reactive Hypoglycemia) 03/2022 - 10/2004
8	Disease Progression 01/2021 - 06/2003
8	Methylmalonic acidemia 11/2020 - 05/2006
8	Hyperammonemia 11/2019 - 09/2008
7	Intellectual Disability (Idiocy) 10/2021 - 03/2013
7	Mitochondrial Diseases (Mitochondrial Disease) 01/2019 - 11/2012
7	Lactic Acidosis 01/2018 - 08/2006
6	Homocystinuria 07/2022 - 04/2008
6	Inborn Urea Cycle Disorders 01/2022 - 05/2012
6	Lysinuric Protein Intolerance 01/2022 - 08/2004
5	Metabolic Diseases (Metabolic Disease) 03/2022 - 08/2006
5	Cardiomyopathies (Cardiomyopathy) 01/2022 - 08/2002
5	Methylenetetrahydrofolate reductase deficiency 01/2022 - 01/2016
5	Epilepsy (Aura) 10/2021 - 09/2015
5	Propionic Acidemia 11/2020 - 09/2014
5	Brain Diseases (Brain Disorder) 01/2016 - 08/2002
4	Glycogen Storage Disease (Glycogenosis) 03/2022 - 01/2016
4	Argininosuccinic Aciduria 01/2022 - 07/2012
4	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2021 - 12/2012
4	Glycogen Storage Disease Type II (Pompe's Disease) 01/2021 - 06/2014
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 09/2014
4	Niemann-Pick Diseases (Niemann Pick Disease) 09/2020 - 03/2017
4	Deafness (Deaf Mutism) 05/2014 - 03/2007
3	Cholestasis 01/2022 - 12/2012
3	Liver Failure 01/2022 - 10/2004
3	Muscular Diseases (Myopathy) 10/2021 - 02/2016
3	Leigh Disease (Leigh's Disease) 01/2021 - 11/2012
3	Ethylmalonic encephalopathy 01/2021 - 02/2004
3	Absent corpus callosum cataract immunodeficiency 01/2021 - 02/2012
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	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	Kearns-Sayre Syndrome 10/2021 - 06/2018
2	Drug Resistant Epilepsy 12/2020 - 02/2002
2	Fanconi Syndrome (Syndrome, Fanconi) 01/2020 - 07/2014
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2019 - 07/2011
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2019 - 01/2018
2	Mitochondrial encephalopathy 01/2018 - 03/2016
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 05/2017 - 02/2015
2	Leukoencephalopathies 01/2017 - 03/2016
2	Fibrosis (Cirrhosis) 01/2016 - 11/2014
2	Ataxia (Dyssynergia) 01/2016 - 03/2015
2	Intrahepatic Cholestasis 01/2016 - 03/2013

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2004
12	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 07/2022 - 05/2006
12	EnzymesIBA 01/2022 - 01/2007
9	Biomarkers (Surrogate Marker)IBA 01/2022 - 08/2006
8	AcidsIBA 01/2021 - 03/2007
6	GlycogenIBA 03/2022 - 02/2016
6	Fatty Acids (Saturated Fatty Acids)IBA 01/2021 - 06/2003
5	Hypoglycemic Agents (Hypoglycemics)IBA 01/2022 - 08/2002
5	HomocysteineIBA 01/2022 - 02/2011
5	Amino Acids FDA Link 01/2021 - 07/2011
5	Arginine (L-Arginine)FDA Link 03/2015 - 05/2012
4	Methylmalonic AcidIBA 07/2022 - 03/2007
4	Urea (Carbamide)FDA LinkGeneric 01/2022 - 07/2012
4	CitrullineIBA 01/2022 - 05/2012
4	Glucose (Dextrose)FDA LinkGeneric 01/2022 - 01/2011
4	Pharmaceutical PreparationsIBA 10/2021 - 09/2015
4	LipidsIBA 09/2020 - 10/2004
4	HHH syndromeIBA 11/2019 - 07/2012
4	OrnithineIBA 01/2019 - 05/2012
4	Carnitine (L-Carnitine)FDA LinkGeneric 11/2009 - 08/2002
3	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 09/2012
3	Betaine (C.B.B.)FDA Link 01/2022 - 02/2011
3	Glutathione (Reduced Glutathione)IBA 12/2020 - 06/2013
3	Methylmalonyl-CoA MutaseIBA 01/2020 - 07/2011
3	alpha-tocotrienol quinoneIBA 01/2019 - 11/2012
3	Ammonium CompoundsIBA 07/2018 - 05/2015
3	Mitochondrial DNA (mtDNA)IBA 06/2018 - 03/2016
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	Sterol Esterase (Hormone-Sensitive Lipase)IBA 03/2022 - 03/2016
2	Biotin (Vitamin H)FDA Link 01/2022 - 01/2021
2	BiotinidaseIBA 01/2022 - 01/2021
2	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 01/2022 - 01/2016
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
2	GlucosidasesIBA 01/2021 - 06/2014
2	CarbohydratesIBA 01/2021 - 11/2018
2	FructoseIBA 10/2020 - 08/2014
2	OxysterolsIBA 08/2020 - 03/2016
2	Ligases (Synthetase)IBA 01/2019 - 11/2015
2	Thioctic Acid (Lipoic Acid)IBA 01/2018 - 01/2017
2	LyasesIBA 01/2016 - 11/2015

Therapy/Procedure

11	Therapeutics 03/2022 - 08/2002
6	Liver Transplantation 01/2022 - 07/2010
4	Ketogenic Diet 10/2021 - 02/2002
2	Enzyme Replacement Therapy 09/2020 - 06/2014