C Dionisi-Vici Selected Research

Infections

2/2006

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

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C Dionisi-Vici Research Topics

Disease

4	Hyperammonemia 11/2001 - 09/2001
3	Inborn Genetic Diseases (Disease, Hereditary) 06/2017 - 02/2006
3	Muscle Hypotonia (Hypotonia) 07/2016 - 04/2000
2	Liver Diseases (Liver Disease) 01/2021 - 02/2008
2	Congenital Disorders of Glycosylation 06/2017 - 12/2009
2	succinic semialdehyde dehydrogenase deficiency 12/2009 - 04/2007
2	Smith-Lemli-Opitz Syndrome 07/2005 - 08/2002
1	Hepatic Encephalopathy 01/2021
1	Absent corpus callosum cataract immunodeficiency 01/2018
1	Epilepsy (Aura) 07/2016
1	Acidosis 11/2014
1	Hypophosphatemia 11/2014
1	Fanconi Syndrome (Syndrome, Fanconi) 11/2014
1	Glycosuria 11/2014
1	Proteinuria 11/2014
1	Osteoporosis 01/2014
1	Metabolic Bone Diseases (Osteopenia) 01/2014
1	Glycogen Storage Disease (Glycogenosis) 01/2014
1	Liver Failure 02/2008
1	Dystonia (Limb Dystonia) 04/2007
1	Infections 02/2006
1	Necrosis 02/2006
1	Massive Hepatic Necrosis 02/2006
1	Methylmalonic acidemia 12/2005
1	Homocystinuria 12/2005
1	Glycogen Storage Disease Type II (Pompe's Disease) 10/2005
1	Intellectual Disability (Idiocy) 07/2005
1	Strabismus (Squint) 06/2005
1	Lysinuric Protein Intolerance 01/2005
1	Renal Insufficiency (Renal Failure) 01/2005
1	Pulmonary Alveolar Proteinosis 01/2005
1	Leukoencephalopathies 12/2002
1	Ataxia (Dyssynergia) 12/2002
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2002
1	Cardiomyopathies (Cardiomyopathy) 01/2002
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2002
1	Coma (Comas) 11/2001
1	Hypoglycemia (Reactive Hypoglycemia) 09/2001
1	Neurodegenerative Diseases (Neurodegenerative Disease) 03/2001
1	Leigh Disease (Leigh's Disease) 03/2001
1	autosomal recessive Segawa syndrome 04/2000
1	Hypokinesia (Bradykinesia) 04/2000
1	Disease Progression 04/2000

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2018 - 09/2001
3	Mitochondrial DNA (mtDNA)IBA 02/2008 - 03/2001
3	HHH syndromeIBA 02/2006 - 09/2001
2	Transaminases (Aminotransferases)IBA 01/2021 - 02/2006
2	Polysaccharides (Glycans)IBA 06/2017 - 12/2009
2	Leucine (L-Leucine)FDA Link 02/2006 - 09/2001
1	Nucleic AcidsIBA 01/2018
1	GlycoconjugatesIBA 06/2017
1	Adenosine (Adenocard)FDA LinkGeneric 07/2016
1	Adenosine KinaseIBA 07/2016
1	Methionine (L-Methionine)FDA Link 07/2016
1	Phosphates (Orthophosphate)IBA 11/2014
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2014
1	gamma-Aminobutyric Acid (GABA)IBA 12/2009
1	LipidsIBA 12/2009
1	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 12/2009
1	deoxyguanosine kinaseIBA 02/2008
1	Vigabatrin FDA Link 04/2007
1	Aspartate Aminotransferases (Aspartate Transaminase)IBA 02/2006
1	Alanine (L-Alanine)FDA Link 02/2006
1	3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA 02/2006
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 12/2005
1	GlycogenIBA 10/2005
1	7-dehydrocholesterolIBA 07/2005
1	Retinaldehyde (Retinal)IBA 06/2005
1	CitrullineIBA 01/2005
1	Amino Acids FDA Link 01/2005
1	Peptide Initiation Factors (Initiation Factor)IBA 12/2002
1	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 12/2002
1	Oxidoreductases (Dehydrogenase)IBA 08/2002
1	Indicators and Reagents (Reagents)IBA 11/2001
1	Sodium Benzoate FDA Link 09/2001
1	Diazoxide (Hyperstat)FDA Link 09/2001
1	N-carbamylglutamateIBA 09/2001
1	Adenosine Triphosphate (ATP)IBA 03/2001
1	Adenosine Triphosphatases (ATPase)IBA 03/2001
1	Neurotransmitter Agents (Neurotransmitter)IBA 04/2000
1	DNA (Deoxyribonucleic Acid)IBA 04/2000

Therapy/Procedure

3	Therapeutics 11/2014 - 04/2000
2	Liver Transplantation 02/2008 - 02/2006
1	Heart Transplantation (Grafting, Heart) 01/2002
1	Renal Dialysis (Hemodialysis) 11/2001