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C Dionisi-Vici Selected Research
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
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2005 - 01/2002
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
Fanconi Syndrome (Syndrome, Fanconi)
11/2014
1
Acidosis
11/2014
1
Proteinuria
11/2014
1
Glycosuria
11/2014
1
Hypophosphatemia
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
Massive Hepatic Necrosis
02/2006
1
Necrosis
02/2006
1
Methylmalonic acidemia
12/2005
1
Homocystinuria
12/2005
1
Glycogen Storage Disease Type II (Pompe's Disease)
10/2005
1
Muscular Diseases (Myopathy)
10/2005
1
Intellectual Disability (Idiocy)
07/2005
1
Strabismus (Squint)
06/2005
1
Lysinuric Protein Intolerance
01/2005
1
Pulmonary Alveolar Proteinosis
01/2005
1
Renal Insufficiency (Renal Failure)
01/2005
1
Leukoencephalopathies
12/2002
1
Ataxia (Dyssynergia)
12/2002
1
Cardiomyopathies (Cardiomyopathy)
01/2002
1
Mitochondrial Diseases (Mitochondrial Disease)
01/2002
1
Coma (Comas)
11/2001
1
Hypoglycemia (Reactive Hypoglycemia)
09/2001
1
Leigh Disease (Leigh's Disease)
03/2001
1
Neurodegenerative Diseases (Neurodegenerative Disease)
03/2001
1
Hypokinesia (Bradykinesia)
04/2000
1
Disease Progression
04/2000
1
autosomal recessive Segawa syndrome
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 syndrome
IBA
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 Acids
IBA
01/2018
1
Glycoconjugates
IBA
06/2017
1
Adenosine (Adenocard)
FDA Link
Generic
07/2016
1
Adenosine Kinase
IBA
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
Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)
IBA
12/2009
1
Lipids
IBA
12/2009
1
gamma-Aminobutyric Acid (GABA)
IBA
12/2009
1
deoxyguanosine kinase
IBA
02/2008
1
Vigabatrin
FDA Link
04/2007
1
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
IBA
02/2006
1
Aspartate Aminotransferases (Aspartate Transaminase)
IBA
02/2006
1
Alanine (L-Alanine)
FDA Link
02/2006
1
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
12/2005
1
Glycogen
IBA
10/2005
1
Pharmaceutical Preparations
IBA
10/2005
1
7-dehydrocholesterol
IBA
07/2005
1
Retinaldehyde (Retinal)
IBA
06/2005
1
Citrulline
IBA
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-carbamylglutamate
IBA
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