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Mark E Pennesi Selected Research

3-Hydroxyacyl-CoA Dehydrogenase

5/2012Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

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Mark E Pennesi Research Topics

Disease

11Retinal Degeneration
05/2024 - 01/2006
10Retinitis Pigmentosa (Pigmentary Retinopathy)
02/2024 - 05/2012
9Atrophy
12/2021 - 04/2016
7Retinal Dystrophies
10/2023 - 02/2015
7Macular Degeneration (Age-Related Maculopathy)
06/2023 - 05/2015
5Choroideremia
10/2023 - 05/2015
5Retinal Diseases
11/2022 - 01/2019
3Diabetic Retinopathy (Retinopathy, Diabetic)
02/2024 - 08/2018
3Disease Progression
01/2023 - 12/2016
3Blindness (Hysterical Blindness)
01/2023 - 01/2019
3Vascular Diseases (Vascular Disease)
01/2021 - 05/2015
3Choroidal Neovascularization
08/2018 - 08/2012
2Trifunctional Protein Deficiency With Myopathy And Neuropathy
01/2023 - 05/2012
2Blister (Bulla)
11/2022 - 09/2022
2Hemorrhage
09/2022 - 01/2016
2Color Vision Defects (Color Blindness)
09/2021 - 07/2014
2Photophobia (Light Sensitivity)
01/2019 - 01/2018
1Vision Disorders (Hemeralopia)
10/2023
1MELAS Syndrome (Syndrome, MELAS)
06/2023
1Gyrate Atrophy
01/2023
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2023
1Usher Syndromes (Usher Syndrome)
12/2022
1Sensorineural Hearing Loss
12/2021
1Blue cone monochromatism
09/2021
1Optic Nerve Diseases (Optic Neuropathy)
01/2021
1Vitreoretinochoroidopathy
01/2021
1Telangiectasis (Telangiectasia)
01/2021
1Vascular Malformations
01/2021
1Neurodegenerative Diseases (Neurodegenerative Disease)
10/2020
1Weight Gain
10/2020
1Epilepsy (Aura)
10/2020
1Ketosis
10/2020
1Hemochromatosis (Bronze Diabetes)
06/2020
1Early Onset Severe Retinal Dystrophy
12/2019
1Leber Congenital Amaurosis
12/2019
1Interstitial Cystitis (Interstitial Cystitis, Chronic)
11/2019
1Macular Edema
01/2019
1Methylmalonic acidemia
12/2016
1Methylmalonic acidemia with homocystinuria
12/2016
1Homocystinuria
12/2016
1White Dot Syndromes
04/2016
1Multifocal Choroiditis
04/2016
1Hyperemia
01/2016
1Mitochondrial Diseases (Mitochondrial Disease)
01/2016
1Scotoma (Scintillating Scotoma)
06/2015
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
04/2014
1Hypersensitivity (Allergy)
04/2006

Drug/Important Bio-Agent (IBA)

28Retinaldehyde (Retinal)IBA
02/2024 - 09/2004
3Proteins (Proteins, Gene)FDA Link
02/2024 - 01/2017
2GTP Phosphohydrolases (GTPases)IBA
02/2024 - 10/2023
2SolutionsIBA
11/2022 - 09/2022
2SaltsIBA
11/2022 - 09/2022
2Retinal Pigments (Pigments, Visual)IBA
12/2021 - 11/2019
2Pentosan Sulfuric Polyester (Pentosan Polysulfate)FDA Link
01/2020 - 11/2019
1CRISPR-Associated Protein 9IBA
05/2024
1Codon (Codons)IBA
02/2024
1Biomarkers (Surrogate Marker)IBA
01/2023
1Arginine (L-Arginine)FDA Link
01/2023
1KetonesIBA
01/2023
1OrnithineIBA
01/2023
1Fatty Acids (Saturated Fatty Acids)IBA
01/2023
1Pyridoxine (Pyridoxin)FDA LinkGeneric
01/2023
1Lysine (L-Lysine)FDA Link
01/2023
1Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA
01/2023
1VS 261IBA
12/2022
1Protein Sorting Signals (Signal Peptide)IBA
11/2022
1Serum AlbuminIBA
10/2020
1Chelating AgentsIBA
06/2020
1IronIBA
06/2020
1Mycophenolic Acid (Cellcept)FDA LinkGeneric
01/2020
1Aligeron (AS 2)IBA
12/2019
1retinol dehydrogenaseIBA
12/2019
1RNA (Ribonucleic Acid)IBA
10/2019
1Valproic Acid (Depakote)FDA LinkGeneric
01/2018
1Bevacizumab (Avastin)FDA Link
12/2016
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
12/2016
1Ciliary Neurotrophic Factor (CNTF)IBA
10/2016
1Azathioprine (Imuran)FDA LinkGeneric
04/2016
1Prednisone (Sone)FDA LinkGeneric
04/2016
1flibanserin (BIMT 17)IBA
01/2016
1Macular PigmentIBA
06/2015
1Coloring Agents (Dyes)IBA
05/2015
1Congenital disorder of glycosylation type 1AIBA
04/2014
1Glucose (Dextrose)FDA LinkGeneric
05/2012
1Mitochondrial Trifunctional ProteinIBA
05/2012
13-Hydroxyacyl-CoA DehydrogenaseIBA
05/2012
1Immunoglobulin G (IgG)IBA
05/2009
1Moxifloxacin (Avelox)FDA Link
04/2006

Therapy/Procedure

8Therapeutics
01/2023 - 08/2012
2Intravitreal Injections
04/2006 - 11/2004
1Activities of Daily Living (ADL)
12/2023
1Cannula
11/2022
1Traction
11/2020
1Protein-Restricted Diet (Diet, Protein Restricted)
10/2020
1Carbohydrate-Restricted Diet (Low Carbohydrate Diet)
10/2020
1Ketogenic Diet
10/2020
1Precision Medicine
01/2020
1Aftercare (After-Treatment)
12/2016
1Operative Surgical Procedures
01/2016
1Investigational Therapies (Experimental Therapy)
02/2015