Begoña Merinero Selected Research

Adenylosuccinate lyase deficiency

7/2012	Novel features in the evolution of adenylosuccinate lyase deficiency.
2/2010	Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

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Begoña Merinero Research Topics

Disease

4	Methylmalonic acidemia 06/2010 - 04/2005
3	Homocystinuria 11/2015 - 03/2006
3	Maple Syrup Urine Disease 09/2014 - 07/2006
3	Mitochondrial Diseases (Mitochondrial Disease) 11/2011 - 09/2005
2	Propionic Acidemia 01/2021 - 09/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2016 - 11/2009
2	Hypoglycemia (Reactive Hypoglycemia) 01/2015 - 01/2009
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2014 - 11/2009
2	Pyridoxine-dependent epilepsy 01/2014 - 02/2013
1	Glycogen Storage Disease (Glycogenosis) 10/2016
1	Methylenetetrahydrofolate reductase deficiency 11/2015
1	Cardiomyopathies (Cardiomyopathy) 01/2015
1	Hepatomegaly 01/2015
1	Heart Diseases (Heart Disease) 01/2015
1	Hyperammonemia 01/2015
1	Cardiac Arrhythmias (Arrythmia) 01/2015
1	Autistic Disorder (Autism) 04/2014
1	Microcephaly 04/2014
1	Metabolic Diseases (Metabolic Disease) 01/2014
1	Brain Diseases (Brain Disorder) 09/2013
1	Seizures (Absence Seizure) 02/2013
1	Atrophy 07/2012
1	Status Epilepticus (Complex Partial Status Epilepticus) 07/2012
1	Demyelinating Diseases (Demyelinating Disease) 07/2012
1	Cognitive Dysfunction 07/2012
1	Drug Resistant Epilepsy 07/2012
1	Rare Diseases (Rare Disease) 08/2011
1	Acidosis 06/2010
1	Lactic Acidosis 06/2010
1	Phenylketonurias (Phenylketonuria) 02/2010
1	Epilepsy (Aura) 09/2009
1	HELLP Syndrome 01/2009
1	Fatty Liver 01/2009
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 01/2009
1	Fetal Death 01/2009
1	Acute fatty liver of pregnancy 01/2009
1	Vascular Diseases (Vascular Disease) 03/2006

Drug/Important Bio-Agent (IBA)

4	Oxidoreductases (Dehydrogenase)IBA 04/2014 - 07/2006
3	Proteins (Proteins, Gene)FDA Link 09/2014 - 11/2011
2	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2021 - 09/2014
2	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 11/2015 - 03/2006
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 11/2015 - 02/2013
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2015 - 01/2009
2	Methylmalonyl-CoA MutaseIBA 09/2014 - 03/2007
2	AcidsIBA 04/2014 - 02/2013
2	Adenylosuccinate lyase deficiencyIBA 07/2012 - 02/2010
1	GlycogenIBA 10/2016
1	Betaine (C.B.B.)FDA Link 11/2015
1	EnzymesIBA 01/2015
1	Carnitine-Acylcarnitine Translocase DeficiencyIBA 01/2015
1	Methylmalonic AcidIBA 09/2014
1	propionic acid (potassium propionate)IBA 09/2014
1	Phosphotransferases (Kinase)IBA 04/2014
1	Branched-Chain Amino AcidsIBA 04/2014
1	allysineIBA 01/2014
1	molybdopterin (molybdenum cofactor)IBA 01/2014
1	Biomarkers (Surrogate Marker)IBA 01/2014
1	Sulfite OxidaseIBA 01/2014
1	Vitamin B 6IBA 02/2013
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 02/2013
1	Pharmaceutical PreparationsIBA 07/2012
1	Ribose (D-Ribose)IBA 07/2012
1	Neurotransmitter Agents (Neurotransmitter)IBA 08/2011
1	Mitochondrial DNA (mtDNA)IBA 06/2010
1	Adenylosuccinate LyaseIBA 02/2010
1	CreatineIBA 11/2009
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/2009
1	X-linked Creatine deficiencyIBA 09/2009
1	Riboflavin (Vitamin B2)FDA LinkGeneric 08/2007
1	cobamamide (adenosylcobalamin)IBA 03/2007
1	HomocysteineIBA 03/2006
1	Isoleucine (L-Isoleucine)FDA Link 09/2005
1	2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase (2-methyl-3-hydroxybutyryl-CoA dehydrogenase)IBA 09/2005
1	methylmalonyl-coenzyme A (methylmalonyl CoA)IBA 04/2005
1	succinyl-coenzyme A (succinyl-CoA)IBA 04/2005

Therapy/Procedure

1	Oral Administration 09/2013
1	Therapeutics 07/2012