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Silvia Funghini Selected Research
Silvia Funghini Research Topics
Disease
2
Short chain Acyl CoA dehydrogenase deficiency
06/2016 - 01/2010
2
Purine Nucleoside Phosphorylase Deficiency
04/2016 - 07/2014
2
Epilepsy (Aura)
05/2015 - 02/2015
2
Severe combined immunodeficiency due to adenosine deaminase deficiency
01/2014 - 06/2013
2
Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
01/2014 - 06/2013
2
Tyrosinemias (Tyrosinemia)
01/2011 - 12/2009
1
Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
12/2020
1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
10/2020
1
Mucopolysaccharidoses
01/2019
1
Inborn Urea Cycle Disorders
01/2018
1
Headache (Headaches)
01/2018
1
Hyperammonemia
01/2018
1
succinic semialdehyde dehydrogenase deficiency
10/2017
1
Homocystinuria
10/2015
1
Vitamin B 12 Deficiency (Vitamin B12 Deficiency)
10/2015
1
Propionic Acidemia
10/2015
1
Methylmalonic acidemia
10/2015
1
Trifunctional Protein Deficiency With Myopathy And Neuropathy
10/2015
1
Trigeminal Neuralgia (Tic Douloureux)
05/2015
1
Bipolar Disorder (Manic Depressive Psychosis)
02/2015
1
Reinfection
01/2014
1
Heart Diseases (Heart Disease)
05/2013
1
Cardiomyopathies (Cardiomyopathy)
02/2013
1
Mucopolysaccharidosis I (Hurler Syndrome)
01/2013
1
Gram-Positive Bacterial Infections
08/2012
1
Hypoglycemia (Reactive Hypoglycemia)
01/2012
1
Metabolic Diseases (Metabolic Disease)
01/2012
1
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
01/2012
1
Inborn Genetic Diseases (Disease, Hereditary)
01/2011
1
Mitochondrial Diseases (Mitochondrial Disease)
01/2010
1
Autoimmune Thyroiditis (Lymphomatous Thyroiditis)
01/2010
1
Vitiligo
01/2010
1
Holocarboxylase Synthetase Deficiency
12/2005
Drug/Important Bio-Agent (IBA)
3
Pharmaceutical Preparations
IBA
05/2015 - 08/2012
2
Enzymes
IBA
12/2020 - 07/2014
2
Proteins (Proteins, Gene)
FDA Link
10/2020 - 10/2015
2
Purine-Nucleoside Phosphorylase
IBA
04/2016 - 07/2014
2
Adenosine Deaminase
IBA
01/2014 - 06/2013
2
succinylacetone
IBA
01/2011 - 12/2009
1
Glycosaminoglycans
IBA
01/2019
1
N-acetyl glutamate synthetase deficiency
IBA
01/2018
1
Amino Acids
FDA Link
01/2018
1
Ammonia
IBA
01/2018
1
succinic semialdehyde
IBA
10/2017
1
Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)
IBA
06/2016
1
Fatty Acids (Saturated Fatty Acids)
IBA
06/2016
1
Gastrins
IBA
10/2015
1
propionylcarnitine
IBA
10/2015
1
hydroxide ion
IBA
10/2015
1
acylcarnitine
IBA
10/2015
1
Carbamazepine (Tegretol)
FDA Link
Generic
05/2015
1
Anticonvulsants (Antiepileptic Drugs)
IBA
02/2015
1
Phenytoin (Dilantin)
FDA Link
Generic
02/2015
1
Guanosine
IBA
07/2014
1
Inosine
FDA Link
07/2014
1
T-Cell Antigen Receptors (T-Cell Receptor)
IBA
06/2013
1
Adenosine (Adenocard)
FDA Link
Generic
06/2013
1
2'-deoxyadenosine
IBA
06/2013
1
Propranolol (Inderal)
FDA Link
Generic
05/2013
1
Oxygen (Dioxygen)
IBA
02/2013
1
Iduronidase (alpha-L-Iduronidase)
IBA
01/2013
1
Oxazolidinones (2 Oxazolidone)
IBA
08/2012
1
Anti-Bacterial Agents (Antibiotics)
IBA
08/2012
1
Glycopeptides
IBA
08/2012
1
Linezolid (Zyvox)
FDA Link
08/2012
1
Acids
IBA
01/2012
1
Codon (Codons)
IBA
01/2012
1
Tyrosine (L-Tyrosine)
FDA Link
01/2011
1
Oxidoreductases (Dehydrogenase)
IBA
01/2010
1
Ligases (Synthetase)
IBA
12/2005
Therapy/Procedure
1
Treatment Delay
01/2018