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Diego Martinelli Selected Research
Diego Martinelli Research Topics
Disease
7
Hyperammonemia
11/2019 - 07/2011
7
Mitochondrial Diseases (Mitochondrial Disease)
01/2019 - 11/2012
6
Intellectual Disability (Idiocy)
11/2019 - 06/2010
5
Lactic Acidosis
01/2018 - 03/2014
4
Ataxia (Dyssynergia)
08/2021 - 05/2013
4
Propionic Acidemia
11/2020 - 09/2014
4
Methylmalonic acidemia
11/2020 - 07/2011
4
Seizures (Absence Seizure)
01/2020 - 09/2012
4
Inborn Urea Cycle Disorders
11/2019 - 05/2012
3
Atrophy
08/2021 - 05/2012
3
Peripheral Nervous System Diseases (PNS Diseases)
08/2021 - 01/2018
3
Disease Progression
01/2021 - 02/2011
3
Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2021 - 09/2014
3
Leigh Disease (Leigh's Disease)
01/2021 - 11/2012
3
Brain Diseases (Brain Disorder)
01/2020 - 07/2011
3
Argininosuccinic Aciduria
11/2019 - 07/2012
3
Lysinuric Protein Intolerance
01/2019 - 04/2012
3
Hyperargininemia
01/2019 - 09/2014
3
Cardiomyopathies (Cardiomyopathy)
01/2018 - 05/2013
3
Leukoencephalopathies
03/2016 - 05/2012
3
Ichthyosis (Xeroderma)
09/2014 - 03/2013
2
Muscular Diseases (Myopathy)
10/2021 - 01/2018
2
Friedreich Ataxia (Friedreich's Ataxia)
10/2021 - 01/2020
2
Kearns-Sayre Syndrome
10/2021 - 06/2018
2
Cerebellar Diseases (Cerebellar Syndrome)
08/2021 - 01/2019
2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
08/2021 - 10/2020
2
Epilepsy (Aura)
01/2020 - 01/2019
2
Metabolic Diseases (Metabolic Disease)
01/2019 - 12/2011
2
Hereditary Spastic Paraplegia
01/2019 - 01/2019
2
Neurodegenerative Diseases (Neurodegenerative Disease)
09/2018 - 10/2016
2
Nonketotic Hyperglycinemia
01/2018 - 09/2012
2
Mitochondrial encephalopathy
01/2018 - 03/2016
2
Cognitive Dysfunction
09/2014 - 05/2013
2
Deafness (Deaf Mutism)
05/2014 - 03/2013
2
Migraine Disorders (Migraine)
05/2013 - 06/2010
1
Fructose Intolerance (Intolerance, Fructose)
01/2022
1
Hyperinsulinism (Hyperinsulinemia)
12/2021
1
Myotonic Dystrophy (Dystrophia Myotonica)
10/2021
1
Laminopathies
10/2021
1
Autoimmune enteropathy
02/2021
1
Intestinal Failure
02/2021
1
Short Bowel Syndrome
02/2021
1
Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
02/2021
1
Erythema
01/2021
1
Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
01/2021
1
Hypoglycemia (Reactive Hypoglycemia)
01/2021
1
Ethylmalonic encephalopathy
01/2021
1
Bundle-Branch Block (Fascicular Block)
01/2021
1
Cardiofaciocutaneous syndrome
01/2021
1
Ventricular Tachycardia
01/2021
1
Bites and Stings (Sting)
02/2020
1
Contracture
01/2020
Drug/Important Bio-Agent (IBA)
9
Proteins (Proteins, Gene)
FDA Link
01/2021 - 09/2012
5
HHH syndrome
IBA
11/2019 - 07/2012
5
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
01/2019 - 02/2011
4
Biomarkers (Surrogate Marker)
IBA
11/2020 - 04/2016
4
Anticonvulsants (Antiepileptic Drugs)
IBA
01/2020 - 06/2010
4
Enzymes
IBA
01/2020 - 02/2011
4
Urea (Carbamide)
FDA Link
Generic
01/2019 - 07/2012
4
Arginine (L-Arginine)
FDA Link
03/2015 - 05/2012
3
Acids
IBA
01/2021 - 11/2011
3
alpha-tocotrienol quinone
IBA
01/2019 - 11/2012
3
Ornithine
IBA
01/2019 - 05/2012
3
Copper
IBA
09/2018 - 03/2013
3
Mitochondrial DNA (mtDNA)
IBA
06/2018 - 05/2012
3
Citrulline
IBA
03/2015 - 05/2012
2
Amino Acids
FDA Link
01/2019 - 04/2012
2
Ligases (Synthetase)
IBA
01/2019 - 11/2015
2
Thioctic Acid (Lipoic Acid)
IBA
01/2018 - 01/2017
2
Oxidoreductases (Dehydrogenase)
IBA
01/2017 - 09/2012
2
glycine cleavage system
IBA
01/2017 - 09/2012
2
Lactic Acid (Lactate)
FDA Link
Generic
02/2016 - 05/2012
2
Riboflavin (Vitamin B2)
FDA Link
Generic
02/2016 - 09/2014
2
Ammonia
IBA
03/2015 - 05/2012
2
Methylmalonyl-CoA Mutase
IBA
09/2014 - 07/2011
2
Sodium Benzoate
FDA Link
09/2014 - 09/2012
2
Nitric Oxide (Nitrogen Monoxide)
FDA Link
03/2014 - 11/2012
1
Mannose (D-Mannose)
IBA
01/2022
1
Polysaccharides (Glycans)
IBA
01/2022
1
Insulin (Novolin)
FDA Link
12/2021
1
Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)
IBA
10/2021
1
Congenital disorder of glycosylation type 1A
IBA
08/2021
1
Mitogen-Activated Protein Kinases
IBA
01/2021
1
Valine (L-Valine)
FDA Link
01/2021
1
Glucose (Dextrose)
FDA Link
Generic
01/2021
1
Collodion (Nitrocellulose)
IBA
01/2021
1
2-methylcitric acid
IBA
11/2020
1
Fluorides
IBA
02/2020
1
Toothpastes
IBA
02/2020
1
Solutions
IBA
02/2020
1
Adenylyl Cyclases (Adenylyl Cyclase)
IBA
01/2020
1
Levetiracetam (Keppra)
FDA Link
Generic
01/2020
Therapy/Procedure
10
Therapeutics
01/2020 - 06/2010
1
Activities of Daily Living (ADL)
08/2021
1
Home Parenteral Nutrition
02/2021
1
Parenteral Nutrition
02/2021
1
Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
01/2021
1
Kidney Transplantation
01/2021
1
Liver Transplantation
01/2021
1
Transplantation
11/2020