Angels García-Cazorla Selected Research

Pterins

11/2018	Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
11/2015	Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels.
12/2009	Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome.
3/2005	HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.

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Angels García-Cazorla Research Topics

Disease

5	Nervous System Diseases (Neurological Disorders) 09/2015 - 12/2010
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 11/2008
3	Brain Diseases (Brain Disorder) 01/2020 - 11/2007
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 05/2011
2	Rett Syndrome (Rett's Disorder) 01/2020 - 01/2013
2	Neurodevelopmental Disorders 01/2020 - 01/2013
2	Kearns-Sayre Syndrome 11/2018 - 05/2011
2	Epilepsy (Aura) 11/2015 - 06/2009
2	Atrophy 10/2015 - 12/2010
2	Neurologic Manifestations (Neurological Manifestations) 05/2011 - 12/2009
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2010 - 03/2005
2	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 04/2009 - 07/2008
1	Cognitive Dysfunction 01/2020
1	Guanidinoacetate methyltransferase deficiency 01/2020
1	Infections 01/2020
1	Aromatic amino acid decarboxylase deficiency 01/2020
1	Hypoglycemia (Reactive Hypoglycemia) 01/2020
1	Methylenetetrahydrofolate reductase deficiency 01/2020
1	Gyrate Atrophy 01/2020
1	Lactic Acidosis 01/2020
1	Rhabdomyolysis 01/2020
1	Interstitial Lung Diseases (Interstitial Lung Disease) 01/2019
1	Headache (Headaches) 01/2019
1	Homocystinuria 01/2019
1	Drug Resistant Epilepsy 11/2015
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 10/2015
1	Ataxia (Dyssynergia) 10/2015
1	Cerebellar Diseases (Cerebellar Syndrome) 10/2015
1	Autistic Disorder (Autism) 04/2014
1	Microcephaly 04/2014
1	Glutathione synthetase deficiency 01/2013
1	Acute Hemorrhagic Leukoencephalitis (Hurst Syndrome) 05/2011
1	Necrosis 05/2011
1	Alzheimer Disease (Alzheimer's Disease) 01/2011
1	Inborn Urea Cycle Disorders 03/2010
1	Phenylketonurias (Phenylketonuria) 02/2010
1	Cryopyrin-Associated Periodic Syndromes 12/2009
1	Seizures (Absence Seizure) 06/2009
1	Coenzyme Q10 Deficiency 05/2009
1	Hyperuricemia 04/2009
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 06/2008
1	Metabolic Diseases (Metabolic Disease) 01/2006
1	Hypernatremia 01/2006

Drug/Important Bio-Agent (IBA)

4	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020 - 12/2010
4	PterinsIBA 11/2018 - 03/2005
3	Proteins (Proteins, Gene)FDA Link 01/2020 - 01/2011
3	Mitochondrial DNA (mtDNA)IBA 01/2019 - 05/2009
3	Dopamine (Intropin)FDA LinkGeneric 11/2018 - 11/2008
3	Biogenic Amines (Biogenic Amine)IBA 11/2018 - 06/2013
3	Oxidoreductases (Dehydrogenase)IBA 04/2014 - 06/2008
2	gamma-Aminobutyric Acid (GABA)IBA 01/2020 - 04/2014
2	Aminobutyrates (Aminobutyric Acid)IBA 01/2020 - 04/2014
2	Pharmaceutical PreparationsIBA 01/2019 - 10/2015
2	Serotonin (5 Hydroxytryptamine)IBA 11/2017 - 12/2010
2	Amino Acids FDA Link 11/2015 - 03/2010
2	Neurotransmitter Agents (Neurotransmitter)IBA 11/2015 - 11/2008
2	AcidsIBA 04/2014 - 12/2010
2	EnzymesIBA 01/2013 - 03/2010
1	Ceftriaxone (Ceftriaxon)FDA LinkGeneric 01/2020
1	Leucine-Rich Repeat ProteinsIBA 01/2019
1	Betaine (C.B.B.)FDA Link 01/2019
1	HomocysteineIBA 01/2019
1	phosphomannomutaseIBA 10/2015
1	Congenital disorder of glycosylation type 1AIBA 10/2015
1	Protein Isoforms (Isoforms)IBA 09/2015
1	Phosphotransferases (Kinase)IBA 04/2014
1	Branched-Chain Amino AcidsIBA 04/2014
1	Homovanillic AcidIBA 06/2013
1	ChloridesIBA 01/2013
1	CationsIBA 01/2013
1	Glutathione (Reduced Glutathione)IBA 01/2013
1	Glutathione Synthase (Glutathione Synthetase)IBA 01/2013
1	Bumetanide (Bumex)FDA LinkGeneric 01/2013
1	Pyroglutamate Hydrolase (5 Oxoprolinase)IBA 01/2013
1	Methyl-CpG-Binding Protein 2IBA 01/2013
1	Indicators and Reagents (Reagents)IBA 05/2011
1	5,11-methenyltetrahydrohomofolateIBA 05/2011
1	Biotin (Vitamin H)FDA Link 05/2011
1	Amyloid (Amyloid Fibrils)IBA 01/2011
1	Peptides (Polypeptides)IBA 01/2011
1	Trace Elements (Biometals)IBA 12/2010
1	5-methyltetrahydrofolateIBA 12/2010
1	Hydroxyindoleacetic AcidIBA 12/2010
1	Choline (Choline Chloride)IBA 12/2010
1	AmmoniaIBA 03/2010
1	Adenylosuccinate lyase deficiencyIBA 02/2010
1	Adenylosuccinate LyaseIBA 02/2010
1	NeopterinIBA 12/2009
1	Anticonvulsants (Antiepileptic Drugs)IBA 06/2009
1	rasburicase (Elitek)FDA Link 04/2009
1	Uric Acid (Urate)IBA 04/2009
1	Levodopa (L Dopa)FDA LinkGeneric 07/2008
1	purineIBA 07/2008
1	PyridoxalIBA 06/2008
1	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 11/2007
1	Dihydroxyphenylalanine (Dopa)IBA 11/2007
1	Proline (L-Proline)FDA Link 01/2006
1	Pyruvate CarboxylaseIBA 01/2006

Therapy/Procedure

2	Therapeutics 01/2019 - 07/2008
1	Ketogenic Diet 11/2015