Antonia Ribes Selected Research

Liver Diseases (Liver Disease)

9/2019

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

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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	EnzymesIBA 01/2022 - 09/2012
4	Biomarkers (Surrogate Marker)IBA 03/2020 - 05/2009
4	AcidsIBA 09/2013 - 04/2005
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 07/2023 - 11/2009
3	LipidsIBA 09/2019 - 10/2004
3	coenzyme Q10 (CoQ10)IBA 05/2014 - 07/2006
3	Oxidoreductases (Dehydrogenase)IBA 04/2014 - 02/2008
3	CreatineIBA 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 LinkGeneric 05/2015 - 01/2014
2	Thioctic Acid (Lipoic Acid)IBA 04/2014 - 09/2013
2	GlucosidasesIBA 02/2013 - 09/2012
2	X-linked Creatine deficiencyIBA 09/2009 - 11/2007
1	Amino Acids FDA Link 12/2023
1	purineIBA 01/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	PyrophosphatasesIBA 01/2022
1	Inosine TriphosphataseIBA 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 AdenosyltransferaseIBA 01/2019
1	Flavin-Adenine Dinucleotide (FAD)IBA 12/2018
1	PterinsIBA 11/2018
1	Biogenic Amines (Biogenic Amine)IBA 11/2018
1	Folic Acid (Vitamin M)FDA LinkGeneric 11/2018
1	Dopamine (Intropin)FDA LinkGeneric 11/2018
1	Levetiracetam (Keppra)FDA LinkGeneric 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 LinkGeneric 11/2015
1	Betaine (C.B.B.)FDA Link 11/2015
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 10/2015
1	GlycolipidsIBA 10/2015
1	CholesterolIBA 10/2015
1	HydrolasesIBA 05/2014
1	AntioxidantsIBA 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 LinkGeneric 11/2013
1	TransferasesIBA 11/2013
1	Carnitine (L-Carnitine)FDA LinkGeneric 07/2013

Therapy/Procedure

2	Ketogenic Diet 05/2015 - 12/2010