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Anne-Frédérique Dessein Selected Research

Carnitine palmitoyl transferase 2 deficiency

11/2023Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
1/2018Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

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Anne-Frédérique Dessein Research Topics

Disease

4Neoplasms (Cancer)
10/2022 - 06/2010
3Neoplasm Metastasis (Metastasis)
01/2021 - 06/2010
3Colonic Neoplasms (Colon Cancer)
02/2014 - 03/2010
2Rhabdomyolysis
11/2023 - 12/2013
2VLCAD deficiency
11/2023 - 12/2013
2Colorectal Neoplasms (Colorectal Cancer)
01/2021 - 03/2010
2Vomiting
11/2019 - 10/2010
1Inborn Genetic Diseases (Disease, Hereditary)
11/2023
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
11/2023
1Short chain Acyl CoA dehydrogenase deficiency
11/2023
1Primitive Neuroectodermal Tumors (PNET)
01/2023
1Paraganglioma (Paragangliomas)
10/2022
1Pheochromocytoma
10/2022
1Global Cerebral Hypomyelination
11/2021
1Obesity
11/2021
1Metabolic Syndrome (Dysmetabolic Syndrome X)
11/2021
1Non-alcoholic Fatty Liver Disease
11/2021
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
10/2020
1Acidosis
11/2019
1Muscular Diseases (Myopathy)
01/2018
1Shock
05/2017
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
01/2017
1Body Weight (Weight, Body)
10/2016
1Intellectual Disability (Idiocy)
12/2015
1Neoplasm Micrometastasis
02/2014
1Hypoglycemia (Reactive Hypoglycemia)
01/2012
1Hepatomegaly
01/2012
1Coma (Comas)
10/2010
1Medium chain acyl CoA dehydrogenase deficiency
10/2010
1Seizures (Absence Seizure)
10/2010
1Carcinoma (Carcinomatosis)
06/2010
1Drug Resistant Epilepsy
06/2009

Drug/Important Bio-Agent (IBA)

4Fatty Acids (Saturated Fatty Acids)IBA
11/2023 - 01/2012
3Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
01/2018 - 01/2012
2Carnitine palmitoyl transferase 2 deficiencyIBA
11/2023 - 01/2018
2Fluorouracil (Carac)FDA LinkGeneric
01/2021 - 02/2014
2LigandsIBA
01/2021 - 06/2010
2Proteins (Proteins, Gene)FDA Link
12/2013 - 03/2010
2Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
12/2013 - 10/2010
1Phosphotransferases (Kinase)IBA
11/2023
1Acyl Coenzyme A (Acyl CoA)IBA
11/2023
1CreatinineIBA
11/2023
1Biomarkers (Surrogate Marker)IBA
01/2023
1NAD (NADH)IBA
10/2022
1citrinIBA
11/2021
1Vitamin A (Retinol)FDA LinkGeneric
01/2021
1Tretinoin (Retinoic Acid)FDA LinkGeneric
01/2021
1Retinoic Acid 4-Hydroxylase (CYP26B1)IBA
01/2021
1AcidsIBA
10/2020
1Ketone BodiesIBA
11/2019
1Saline SolutionIBA
05/2017
1Sodium Bicarbonate (Baking Soda)FDA LinkGeneric
05/2017
1Sodium LactateFDA LinkGeneric
05/2017
1Arginine (L-Arginine)FDA Link
01/2017
1Proline (L-Proline)FDA Link
01/2017
1Interleukin-6 (Interleukin 6)IBA
10/2016
1CreatineIBA
12/2015
1Peroxisome Proliferator-Activated Receptors (PPAR)IBA
12/2013
1LipidsIBA
12/2013
1Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaIBA
12/2013
1CytokinesIBA
12/2013
1NucleotidesIBA
01/2012
1Hypoglycemic Agents (Hypoglycemics)IBA
10/2010
1Macrophage Migration-Inhibitory FactorsIBA
06/2010
1INTERCEEDIBA
03/2010

Therapy/Procedure

3Therapeutics
01/2021 - 06/2009
2Drug Therapy (Chemotherapy)
02/2014 - 06/2010
1Neoadjuvant Therapy
02/2014
1Folfox protocol
06/2010
1Ketogenic Diet
06/2009
1High-Protein Low-Carbohydrate Diet (Atkins Diet)
06/2009