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Antonia Ribes Selected Research
Antonia Ribes Research Topics
Disease
8
Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 09/2005
5
Inborn Genetic Diseases (Disease, Hereditary)
07/2023 - 03/2009
3
Coenzyme Q10 Deficiency
01/2022 - 07/2006
3
Brain Diseases (Brain Disorder)
01/2022 - 09/2013
3
Homocystinuria
01/2019 - 11/2009
2
Phenylketonurias (Phenylketonuria)
12/2023 - 02/2010
2
Mitochondrial Myopathies (Mitochondrial Myopathy)
01/2022 - 09/2019
2
Short chain Acyl CoA dehydrogenase deficiency
01/2021 - 08/2008
2
Leigh Disease (Leigh's Disease)
01/2021 - 01/2016
2
3-Methylglutaconic Aciduria
03/2020 - 09/2013
2
Hypoglycemia (Reactive Hypoglycemia)
01/2020 - 10/2004
2
Lactic Acidosis
01/2020 - 04/2014
2
Muscular Diseases (Myopathy)
09/2019 - 12/2018
2
Methylenetetrahydrofolate reductase deficiency
01/2019 - 11/2015
2
Congenital Disorders of Glycosylation
01/2017 - 03/2009
2
Myoclonic Epilepsies (Myoclonic Encephalopathy)
11/2016 - 11/2013
2
Due To LAD Deficiency Congenital Infantile Lactic Acidosis
07/2014 - 12/2010
2
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
11/2013 - 12/2010
2
Epilepsy (Aura)
09/2009 - 06/2009
2
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
06/2008 - 02/2008
1
Retinal Dystrophies
10/2022
1
Hearing Loss (Hearing Impairment)
10/2022
1
Anemia
01/2021
1
Failure to Thrive
01/2021
1
Atrophy
03/2020
1
Cognitive Dysfunction
01/2020
1
Rhabdomyolysis
01/2020
1
Liver Diseases (Liver Disease)
09/2019
1
Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
01/2019
1
Cataract (Cataracts)
12/2018
1
Scoliosis
12/2018
1
Kearns-Sayre Syndrome
11/2018
1
Ataxia (Dyssynergia)
11/2016
1
Nervous System Diseases (Neurological Disorders)
01/2016
1
Metabolic Diseases (Metabolic Disease)
10/2015
1
Neurodegenerative Diseases (Neurodegenerative Disease)
10/2015
1
Cerebrotendinous Xanthomatosis
10/2015
1
Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
10/2015
1
Wolman Disease (Wolman's Disease)
10/2015
1
Galactosemias (Galactosemia)
10/2015
1
Pyruvate Dehydrogenase Complex Deficiency Disease
05/2015
1
Mucopolysaccharidosis III (Sanfilippo Syndrome)
05/2014
1
Body Weight (Weight, Body)
01/2014
1
Nephrotic Syndrome (Syndrome, Nephrotic)
11/2013
1
Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal)
11/2013
1
Medium chain acyl CoA dehydrogenase deficiency
07/2013
Drug/Important Bio-Agent (IBA)
6
Proteins (Proteins, Gene)
FDA Link
01/2020 - 11/2007
4
Fatty Acids (Saturated Fatty Acids)
IBA
01/2022 - 08/2008
4
Enzymes
IBA
01/2022 - 09/2012
4
Biomarkers (Surrogate Marker)
IBA
03/2020 - 05/2009
4
Acids
IBA
09/2013 - 04/2005
3
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
07/2023 - 11/2009
3
Lipids
IBA
09/2019 - 10/2004
3
coenzyme Q10 (CoQ10)
IBA
05/2014 - 07/2006
3
Oxidoreductases (Dehydrogenase)
IBA
04/2014 - 02/2008
3
Creatine
IBA
02/2013 - 11/2007
2
RNA (Ribonucleic Acid)
IBA
10/2022 - 01/2022
2
Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)
IBA
01/2021 - 08/2008
2
Mitochondrial Proteins (Mitochondrial Protein)
IBA
09/2019 - 12/2010
2
Mitochondrial DNA (mtDNA)
IBA
11/2018 - 11/2012
2
Thiamine (Aneurin)
FDA Link
01/2016 - 12/2010
2
Pyruvic Acid (Pyruvate)
IBA
05/2015 - 04/2014
2
Glucose (Dextrose)
FDA Link
Generic
05/2015 - 01/2014
2
Thioctic Acid (Lipoic Acid)
IBA
04/2014 - 09/2013
2
Glucosidases
IBA
02/2013 - 09/2012
2
X-linked Creatine deficiency
IBA
09/2009 - 11/2007
1
Amino Acids
FDA Link
12/2023
1
purine
IBA
01/2022
1
Inosine Triphosphate (ITP)
IBA
01/2022
1
Pyrophosphatases
IBA
01/2022
1
Inosine Triphosphatase
IBA
01/2022
1
Valine (L-Valine)
FDA Link
01/2021
1
ethylmalonic acid (ethylmalonate)
IBA
01/2021
1
Phosphotransferases (Kinase)
IBA
09/2019
1
T-Cell Antigen Receptors (T-Cell Receptor)
IBA
01/2019
1
Methionine Adenosyltransferase
IBA
01/2019
1
Flavin-Adenine Dinucleotide (FAD)
IBA
12/2018
1
Pterins
IBA
11/2018
1
Biogenic Amines (Biogenic Amine)
IBA
11/2018
1
Folic Acid (Vitamin M)
FDA Link
Generic
11/2018
1
Dopamine (Intropin)
FDA Link
Generic
11/2018
1
Levetiracetam (Keppra)
FDA Link
Generic
11/2016
1
Dihydrotachysterol (AT 10)
IBA
11/2016
1
Biotin (Vitamin H)
FDA Link
01/2016
1
Cystathionine beta-Synthase (Serine Sulfhydrase)
IBA
11/2015
1
Pyridoxine (Pyridoxin)
FDA Link
Generic
11/2015
1
Betaine (C.B.B.)
FDA Link
11/2015
1
Sterol Esterase (Hormone-Sensitive Lipase)
IBA
10/2015
1
Glycolipids
IBA
10/2015
1
Cholesterol
IBA
10/2015
1
Hydrolases
IBA
05/2014
1
Antioxidants
IBA
05/2014
1
Protons (Proton)
IBA
05/2014
1
Ketoglutaric Acids (Ketoglutaric Acid)
IBA
04/2014
1
Triglycerides (Triacylglycerol)
IBA
01/2014
1
Insulin (Novolin)
FDA Link
01/2014
1
Lactic Acid (Lactate)
FDA Link
Generic
11/2013
1
Transferases
IBA
11/2013
1
Carnitine (L-Carnitine)
FDA Link
Generic
07/2013
Therapy/Procedure
2
Ketogenic Diet
05/2015 - 12/2010