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Francesco Porta Selected Research
Francesco Porta Research Topics
Disease
16
Phenylketonurias (Phenylketonuria)
12/2020 - 03/2008
4
Methylmalonic acidemia
01/2022 - 07/2015
4
6-pyruvoyl-tetrahydropterin synthase deficiency
09/2020 - 03/2008
3
Glycogen Storage Disease Type II (Pompe's Disease)
12/2018 - 06/2013
2
Thyrotoxicosis
01/2022 - 01/2020
2
Medium chain acyl CoA dehydrogenase deficiency
01/2021 - 10/2012
2
Knee Osteoarthritis
01/2021 - 04/2012
2
Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2019 - 10/2018
2
Coma (Comas)
10/2018 - 07/2015
2
Hypercholesterolemia
01/2018 - 02/2016
2
Parkinson Disease (Parkinson's Disease)
11/2016 - 05/2015
2
Disease Progression
07/2015 - 05/2015
2
Hyperammonemia
07/2015 - 03/2010
2
Intellectual Disability (Idiocy)
05/2015 - 03/2010
2
Systemic Scleroderma (Systemic Sclerosis)
08/2011 - 11/2010
2
Necrosis
11/2010 - 11/2010
1
Leukoencephalopathies
01/2022
1
Methylmalonic acidemia with homocystinuria
01/2022
1
Atypical Hemolytic Uremic Syndrome
01/2022
1
Hyperhomocysteinemia
01/2022
1
Leigh Disease (Leigh's Disease)
02/2021
1
Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
01/2021
1
Substance-Related Disorders (Drug Abuse)
01/2021
1
Movement Disorders (Movement Disorder)
01/2021
1
Hypothyroidism
01/2020
1
Argininosuccinic Aciduria
01/2020
1
due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia
01/2020
1
isovaleric Acidemia
02/2019
1
Muscle Weakness
12/2018
1
Maple Syrup Urine Disease
10/2018
1
Birth Weight (Birth Weights)
10/2018
1
Type B Niemann-Pick Disease
02/2018
1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2018
1
succinic semialdehyde dehydrogenase deficiency
01/2018
1
Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
12/2017
1
Fabry Disease (Fabry's Disease)
01/2017
1
Disruptive, Impulse Control, and Conduct Disorders (Kleptomania)
11/2016
1
Gambling (Pathological Gambling)
11/2016
1
Acidosis
07/2015
1
Liver Failure
05/2015
1
Galactosemias (Galactosemia)
05/2015
1
Pain (Aches)
01/2014
Drug/Important Bio-Agent (IBA)
6
sapropterin (tetrahydrobiopterin)
FDA Link
09/2020 - 03/2008
4
Enzymes
IBA
01/2021 - 04/2011
4
Phenylalanine (L-Phenylalanine)
FDA Link
12/2020 - 05/2008
4
Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)
IBA
09/2020 - 05/2008
4
Dopamine Agonists (Dopamine Agonist)
IBA
11/2016 - 04/2012
3
Thyroid Hormones
IBA
01/2022 - 01/2020
3
Amino Acids
FDA Link
12/2020 - 01/2020
3
Levodopa (L Dopa)
FDA Link
Generic
11/2016 - 04/2012
3
Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)
IBA
11/2016 - 03/2008
2
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
01/2022 - 07/2015
2
Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)
IBA
01/2021 - 10/2012
2
chitotriosidase
IBA
02/2018 - 01/2013
2
Pramipexole (Mirapex)
FDA Link
Generic
11/2016 - 04/2012
2
tetrahydropterin
IBA
11/2016 - 04/2012
2
Prolactin
IBA
01/2016 - 05/2015
2
Dopamine (Intropin)
FDA Link
Generic
05/2015 - 04/2012
2
Fatty Acids (Saturated Fatty Acids)
IBA
10/2012 - 03/2010
1
Methionine (L-Methionine)
FDA Link
01/2022
1
Thiamine (Aneurin)
FDA Link
02/2021
1
Neurotransmitter Agents (Neurotransmitter)
IBA
01/2021
1
Opioid Analgesics (Opioids)
IBA
01/2021
1
Hyaluronic Acid (Hyaluronan)
IBA
01/2021
1
Tyrosine (L-Tyrosine)
FDA Link
12/2020
1
Mixed Function Oxygenases (Monooxygenases)
IBA
12/2020
1
Biogenic Amines (Biogenic Amine)
IBA
09/2020
1
Guanosine Triphosphate (GTP)
IBA
01/2020
1
3-methylbutyrylcarnitine
IBA
02/2019
1
pivalic acid
IBA
02/2019
1
pivaloylcarnitine
IBA
02/2019
1
alpha-Glucosidases (Acid Maltase)
IBA
11/2018
1
Glycogen
IBA
11/2018
1
Urea (Carbamide)
FDA Link
Generic
10/2018
1
Ammonia
IBA
10/2018
1
Familial apoceruloplasmin deficiency
IBA
01/2018
1
gamma-Aminobutyric Acid (GABA)
IBA
01/2018
1
globotriaosylceramide (globotriosylceramide)
IBA
01/2017
1
Glycosphingolipids
IBA
01/2017
1
Galactosidases
IBA
01/2017
1
globotriaosyl lysosphingolipid
IBA
01/2017
1
rotigotine
FDA Link
08/2016
1
Transaminases (Aminotransferases)
IBA
02/2016
1
Alkaline Phosphatase
IBA
02/2016
1
Ceruloplasmin (Ferroxidase)
IBA
02/2016
1
Biomarkers (Surrogate Marker)
IBA
01/2016
1
Methylmalonyl-CoA Mutase
IBA
07/2015
1
UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)
IBA
05/2015
1
Facilitative Glucose Transport Proteins (Glucose Transporter)
IBA
05/2015
1
Serotonin (5 Hydroxytryptamine)
IBA
05/2015
1
Homovanillic Acid
IBA
05/2015
1
Galactose (Galactopyranose)
FDA Link
Generic
05/2015
Therapy/Procedure
6
Therapeutics
12/2020 - 04/2010
4
Liver Transplantation
01/2020 - 07/2015
1
Enzyme Replacement Therapy
12/2018
1
Artificial Respiration (Mechanical Ventilation)
12/2018
1
Renal Replacement Therapy (Therapies, Renal Replacement)
10/2018
1
Hematopoietic Stem Cell Transplantation
02/2018
1
Secondary Prevention
12/2017
1
Aftercare (After-Treatment)
01/2014