Silvia Funghini Selected Research

Oxidoreductases (Dehydrogenase)

1/2010

Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency.

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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	Inborn Errors Metabolism (Inborn Errors of Metabolism) 08/2022
1	Clinical Deterioration 07/2022
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	Hyperammonemia 01/2018
1	Headache (Headaches) 01/2018
1	Inborn Urea Cycle Disorders 01/2018
1	succinic semialdehyde dehydrogenase deficiency 10/2017
1	Homocystinuria 10/2015
1	Methylmalonic acidemia 10/2015
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 10/2015
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 10/2015
1	Propionic Acidemia 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	Vitiligo 01/2010
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2010
1	Autoimmune Thyroiditis (Lymphomatous Thyroiditis) 01/2010
1	Holocarboxylase Synthetase Deficiency 12/2005

Drug/Important Bio-Agent (IBA)

2	EnzymesIBA 12/2020 - 07/2014
2	Proteins (Proteins, Gene)FDA Link 10/2020 - 10/2015
2	Purine-Nucleoside PhosphorylaseIBA 04/2016 - 07/2014
2	Adenosine DeaminaseIBA 01/2014 - 06/2013
2	succinylacetoneIBA 01/2011 - 12/2009
1	GlycosaminoglycansIBA 01/2019
1	Amino Acids FDA Link 01/2018
1	AmmoniaIBA 01/2018
1	N-acetyl glutamate synthetase deficiencyIBA 01/2018
1	succinic semialdehydeIBA 10/2017
1	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 06/2016
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2016
1	hydroxide ionIBA 10/2015
1	acylcarnitineIBA 10/2015
1	GastrinsIBA 10/2015
1	propionylcarnitineIBA 10/2015
1	Carbamazepine (Tegretol)FDA LinkGeneric 05/2015
1	Anticonvulsants (Antiepileptic Drugs)IBA 02/2015
1	Phenytoin (Dilantin)FDA LinkGeneric 02/2015
1	GuanosineIBA 07/2014
1	Inosine FDA Link 07/2014
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 06/2013
1	2'-deoxyadenosineIBA 06/2013
1	Adenosine (Adenocard)FDA LinkGeneric 06/2013
1	Propranolol (Inderal)FDA LinkGeneric 05/2013
1	Oxygen (Dioxygen)IBA 02/2013
1	Iduronidase (alpha-L-Iduronidase)IBA 01/2013
1	Oxazolidinones (2 Oxazolidone)IBA 08/2012
1	GlycopeptidesIBA 08/2012
1	Linezolid (Zyvox)FDA Link 08/2012
1	Anti-Bacterial Agents (Antibiotics)IBA 08/2012
1	Codon (Codons)IBA 01/2012
1	AcidsIBA 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	Secondary Prevention 08/2022
1	Therapeutics 07/2022
1	Treatment Delay 01/2018