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Frederic Tort Selected Research

Due To LAD Deficiency Congenital Infantile Lactic Acidosis

7/2014Lipoic acid biosynthesis defects.
12/2010Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

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Frederic Tort Research Topics

Disease

4Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 11/2011
3Brain Diseases (Brain Disorder)
01/2022 - 09/2013
3Neoplasms (Cancer)
11/2006 - 01/2002
2Inborn Genetic Diseases (Disease, Hereditary)
01/2021 - 01/2021
23-Methylglutaconic Aciduria
03/2020 - 09/2013
2Lactic Acidosis
01/2020 - 04/2014
2Due To LAD Deficiency Congenital Infantile Lactic Acidosis
07/2014 - 12/2010
2Ataxia Telangiectasia (Louis Bar Syndrome)
11/2006 - 01/2002
1Acute Liver Failure (Fulminant Hepatic Failure)
03/2021
1Failure to Thrive
01/2021
1Glycogen Storage Disease XIV
01/2021
1Anemia
01/2021
1Leigh Disease (Leigh's Disease)
01/2021
1Atrophy
03/2020
1Hypoglycemia (Reactive Hypoglycemia)
01/2020
1Rhabdomyolysis
01/2020
1Cognitive Dysfunction
01/2020
1Cataract (Cataracts)
12/2018
1Muscular Diseases (Myopathy)
12/2018
1Scoliosis
12/2018
1Congenital Disorders of Glycosylation
01/2017
1Ataxia (Dyssynergia)
11/2016
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
11/2016
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
12/2010
1Acidosis
12/2010
1Adenoma (Adenomas)
11/2006
1Carcinogenesis
11/2006
1Retinoblastoma (Glioblastoma, Retinal)
11/2006
1Anaplastic Large-Cell Lymphoma (Ki 1 Lymphoma)
08/2004
1Chromosomal Instability (Chromosome Stability)
12/2002
1Lymphoma (Lymphomas)
12/2002
1Mantle-Cell Lymphoma (Lymphoma, Mantle Cell)
01/2002

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2020 - 01/2002
3Phosphotransferases (Kinase)IBA
11/2006 - 01/2002
2EnzymesIBA
01/2022 - 07/2014
2Thioctic Acid (Lipoic Acid)IBA
04/2014 - 09/2013
1RNA (Ribonucleic Acid)IBA
01/2022
1Inosine TriphosphataseIBA
01/2022
1Inosine Triphosphate (ITP)IBA
01/2022
1PyrophosphatasesIBA
01/2022
1purineIBA
01/2022
1Transfer RNA (tRNA)IBA
03/2021
1MethyltransferasesIBA
03/2021
15-methylaminomethyl-2-thiouridylateIBA
03/2021
1GlycogenIBA
01/2021
1PhosphoglucomutaseIBA
01/2021
1Valine (L-Valine)FDA Link
01/2021
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
01/2021
1Biomarkers (Surrogate Marker)IBA
03/2020
1Flavin-Adenine Dinucleotide (FAD)IBA
12/2018
1LipidsIBA
01/2017
1Levetiracetam (Keppra)FDA LinkGeneric
11/2016
1Dihydrotachysterol (AT 10)IBA
11/2016
1Pyruvic Acid (Pyruvate)IBA
04/2014
1Oxidoreductases (Dehydrogenase)IBA
04/2014
1Ketoglutaric Acids (Ketoglutaric Acid)IBA
04/2014
1AcidsIBA
09/2013
1Mitochondrial DNA (mtDNA)IBA
11/2012
1Dihydrolipoamide Dehydrogenase (Lipoamide Dehydrogenase)IBA
12/2010
1Mitochondrial Proteins (Mitochondrial Protein)IBA
12/2010
1FrataxinIBA
12/2010
1Thiamine (Aneurin)FDA Link
12/2010
1Branched-Chain Amino AcidsIBA
12/2010
1DNA (Deoxyribonucleic Acid)IBA
11/2006
1Biological ProductsIBA
11/2006
1Cyclin-Dependent Kinases (cdk Proteins)IBA
11/2006
1Cyclin EIBA
11/2006
1Cyclin D1IBA
11/2006
1Cyclin-Dependent Kinase Inhibitor p16IBA
11/2006
1Pyridinolcarbamate (P23)IBA
08/2004
1Anaplastic Lymphoma KinaseIBA
08/2004
1NucleophosminIBA
08/2004
1Messenger RNA (mRNA)IBA
12/2002
1Phosphatidylinositol 3-Kinases (PI 3 Kinase)IBA
01/2002
1Tumor Suppressor Protein p14ARF (p14ARF)IBA
01/2002

Therapy/Procedure

1Ketogenic Diet
12/2010