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Fernando Scaglia Selected Research

Fernando Scaglia Research Topics

Disease

21Mitochondrial Diseases (Mitochondrial Disease)
03/2024 - 12/2003
11MELAS Syndrome (Syndrome, MELAS)
11/2023 - 01/2006
8Stroke (Strokes)
11/2023 - 04/2012
7Lactic Acidosis
01/2023 - 01/2006
7Muscular Diseases (Myopathy)
10/2020 - 02/2005
5Hyperammonemia
01/2023 - 12/2002
5Cardiomyopathies (Cardiomyopathy)
01/2023 - 09/2004
5Inborn Errors Metabolism (Inborn Errors of Metabolism)
10/2021 - 01/2010
5Inborn Urea Cycle Disorders
01/2019 - 04/2004
5Ornithine Carbamoyltransferase Deficiency Disease
01/2010 - 10/2003
4Seizures (Absence Seizure)
01/2023 - 07/2008
4Hypoglycemia (Reactive Hypoglycemia)
01/2022 - 12/2002
4Leigh Disease (Leigh's Disease)
10/2019 - 06/2011
3Ataxia (Dyssynergia)
01/2023 - 01/2012
3Mitochondrial Myopathies (Mitochondrial Myopathy)
01/2023 - 02/2005
3Epilepsy (Aura)
01/2023 - 07/2008
3Failure to Thrive
01/2023 - 03/2007
3Hyperargininemia
01/2019 - 10/2004
3Intellectual Disability (Idiocy)
10/2017 - 07/2008
3Autistic Disorder (Autism)
10/2015 - 07/2008
3Adult-onset citrullinemia type 2
01/2009 - 03/2007
2Microcephaly
01/2023 - 10/2017
2Muscle Hypotonia (Hypotonia)
01/2023 - 01/2012
2Brain Diseases (Brain Disorder)
01/2023 - 01/2019
2Sensorineural Hearing Loss
11/2020 - 01/2018
2Methylmalonic acidemia
12/2019 - 04/2005
2Optic Atrophy
01/2019 - 12/2017
2Autism Spectrum Disorder
01/2019 - 09/2015
2Congenital Heart Defects (Congenital Heart Defect)
10/2018 - 01/2018
2Neurodevelopmental Disorders
01/2018 - 10/2017
2Inborn Genetic Diseases (Disease, Hereditary)
08/2013 - 02/2005
2Mitochondrial cytopathy
12/2003 - 12/2002
1Movement Disorders (Movement Disorder)
05/2024
1Mitochondrial encephalopathy
03/2024
1Fatigue
01/2023
1Wolff-Parkinson-White Syndrome (Wolf-Parkinson-White Syndrome)
01/2023
1Pulmonary Hypertension
01/2023
1Acute Liver Failure (Fulminant Hepatic Failure)
01/2023
1Lethargy
01/2023
1Hypospadias
01/2023
1Hypothyroidism
01/2023
1Heart Failure
01/2023
13-Methylglutaconic Aciduria
01/2023
1Sideroblastic Anemia
01/2022
1Fever (Fevers)
01/2022
1Pre-Eclampsia (Preeclampsia)
11/2021
1Congenital Disorders of Glycosylation
10/2021

Drug/Important Bio-Agent (IBA)

13Arginine (L-Arginine)FDA Link
11/2023 - 07/2009
10CitrullineIBA
11/2023 - 03/2007
10Nitric Oxide (Nitrogen Monoxide)FDA Link
11/2023 - 04/2012
10Mitochondrial DNA (mtDNA)IBA
09/2022 - 10/2004
7Carnitine (L-Carnitine)FDA LinkGeneric
10/2020 - 08/2010
6Proteins (Proteins, Gene)FDA Link
05/2024 - 11/2005
6EnzymesIBA
02/2016 - 01/2006
5Adenosine Triphosphate (ATP)IBA
01/2023 - 07/2008
5Amino AcidsFDA Link
10/2020 - 03/2007
5coenzyme Q10 (CoQ10)IBA
10/2020 - 02/2005
5NitrogenIBA
06/2011 - 10/2003
4IsotopesIBA
04/2016 - 04/2004
4Urea (Carbamide)FDA LinkGeneric
07/2009 - 10/2003
3Cysteine (L-Cysteine)FDA Link
01/2023 - 11/2017
3AcidsIBA
10/2020 - 02/2005
3Fatty Acids (Saturated Fatty Acids)IBA
10/2020 - 12/2002
3Therapeutic UsesIBA
04/2016 - 04/2012
3AmmoniaIBA
10/2004 - 10/2003
2Phospholipids (Phosphatides)FDA LinkGeneric
03/2024 - 11/2005
2Biomarkers (Surrogate Marker)IBA
03/2024 - 01/2019
2oligomycin sensitivity-conferring protein (complex V)IBA
01/2023 - 01/2016
2NucleotidesIBA
01/2023 - 11/2017
2arginyl- 2,'6'- dimethyltyrosyl- lysyl- phenylalaninamideIBA
01/2023 - 11/2017
2Transfer RNA (tRNA)IBA
01/2022 - 12/2003
2Acetylcysteine (Siran)FDA LinkGeneric
01/2021 - 01/2019
2Riboflavin (Vitamin B2)FDA LinkGeneric
11/2020 - 11/2017
2acylcarnitineIBA
10/2020 - 02/2005
2Cell-Free Nucleic AcidsIBA
04/2020 - 01/2019
2omaveloxoloneIBA
01/2020 - 11/2017
2Electron Transport Complex IV (Cytochrome c Oxidase)IBA
10/2019 - 11/2012
2Reactive Oxygen Species (Oxygen Radicals)IBA
12/2017 - 01/2016
2Oxidoreductases (Dehydrogenase)IBA
12/2017 - 07/2011
2AntioxidantsIBA
11/2017 - 01/2006
2CreatineIBA
11/2017 - 04/2005
2DNA (Deoxyribonucleic Acid)IBA
10/2017 - 03/2007
2Folic Acid (Vitamin M)FDA LinkGeneric
09/2011 - 07/2008
2Glutamine (L-Glutamine)FDA Link
10/2010 - 10/2003
2Systemic carnitine deficiencyIBA
08/2010 - 01/2010
2Branched-Chain Amino AcidsIBA
01/2010 - 04/2004
2Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
07/2009 - 07/2008
2citrinIBA
01/2009 - 07/2008
2ArginaseIBA
05/2006 - 10/2004
1Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
03/2024
1Nitric Oxide DonorsIBA
11/2023
1Merozoite Surface Protein 1 (MSA1)IBA
01/2023
1Growth Hormone (Somatotropin)IBA
01/2022
1NAD (NADH)IBA
01/2022
1Aspirin (Acetylsalicylic Acid)FDA LinkGeneric
11/2021

Therapy/Procedure

8Therapeutics
09/2020 - 04/2004
7Liver Transplantation
01/2021 - 10/2008
2Aftercare (After-Treatment)
11/2020 - 10/2020
1Ketogenic Diet
01/2023
1Communication Aids for Disabled (TDD)
01/2023