Belén Pérez Selected Research

Lyases

3/2022

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

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Belén Pérez Research Topics

Disease

17	Propionic Acidemia 01/2023 - 11/2002
12	Alzheimer Disease (Alzheimer's Disease) 09/2023 - 03/2014
11	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 04/2024 - 02/2009
9	Phenylketonurias (Phenylketonuria) 10/2022 - 11/2004
8	Rare Diseases (Rare Disease) 01/2023 - 11/2010
7	Methylmalonic acidemia 03/2022 - 04/2005
7	Homocystinuria 03/2022 - 11/2009
6	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 01/2017
4	Ischemic Stroke 02/2024 - 08/2015
4	Neuroinflammatory Diseases 09/2023 - 01/2017
4	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 09/2013
4	Metabolic Diseases (Metabolic Disease) 12/2020 - 07/2006
3	Cognitive Dysfunction 09/2023 - 10/2017
3	Cardiomyopathies (Cardiomyopathy) 01/2023 - 01/2015
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 11/2009
3	Brain Diseases (Brain Disorder) 05/2022 - 09/2013
3	Stroke (Strokes) 12/2020 - 08/2015
3	Cerebellar Diseases (Cerebellar Syndrome) 01/2019 - 10/2015
3	Atrophy 01/2017 - 10/2015
3	Hepatocellular Carcinoma (Hepatoma) 09/2014 - 03/2006
2	Infarction (Infarctions) 02/2024 - 08/2015
2	Brain Injuries (Brain Injury) 02/2024 - 12/2020
2	Pathologic Constriction (Stenosis) 02/2023 - 01/2020
2	Aneurysm (Aneurysms) 01/2023 - 04/2021
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2023 - 01/2020
2	Citrullinemia 10/2022 - 03/2022
2	Maple Syrup Urine Disease 10/2022 - 03/2022
2	Ornithine Carbamoyltransferase Deficiency Disease 03/2022 - 01/2015
2	Neoplasms (Cancer) 01/2020 - 01/2017
2	Congenital Disorders of Glycosylation 01/2019 - 05/2013
2	Congenital disorder of glycosylation type II 01/2019 - 05/2013
2	Ataxia (Dyssynergia) 02/2018 - 10/2015
2	Seizures (Absence Seizure) 02/2013 - 10/2011
1	Parkinson Disease (Parkinson's Disease) 09/2023
1	Gliosis 03/2023
1	Atherosclerotic Plaque (Atheroma) 02/2023
1	Carotid Artery Diseases 02/2023
1	Carotid Stenosis (Carotid Artery Stenosis) 02/2023
1	Abdominal Aortic Aneurysm 01/2023
1	Nonketotic Hyperglycinemia 01/2023
1	Aortic Root Aneurysm 11/2022
1	Marfan Syndrome (Marfan's Syndrome) 11/2022
1	Aortic Aneurysm (Aneurysm, Aortic) 11/2022

Drug/Important Bio-Agent (IBA)

14	EnzymesIBA 02/2023 - 11/2002
11	AntioxidantsIBA 02/2023 - 11/2010
10	Congenital disorder of glycosylation type 1AIBA 04/2024 - 10/2015
10	6-propylchromone-2-carboxylic acid (PCCA)IBA 01/2021 - 11/2002
9	phosphomannomutaseIBA 04/2024 - 08/2011
9	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2021 - 11/2002
7	Proteins (Proteins, Gene)FDA Link 01/2023 - 02/2009
6	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 11/2004
5	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2023 - 11/2010
5	Biotin (Vitamin H)FDA Link 09/2021 - 11/2002
4	MicroRNAs (MicroRNA)IBA 01/2023 - 01/2017
4	ImidazolinesIBA 05/2022 - 01/2020
4	Branched-Chain Amino AcidsIBA 03/2022 - 01/2017
4	LigandsIBA 10/2021 - 01/2019
4	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2020 - 11/2009
4	sapropterin (tetrahydrobiopterin)FDA Link 05/2013 - 11/2004
3	Epoxide HydrolasesIBA 10/2022 - 10/2020
3	Uric Acid (Urate)IBA 12/2020 - 04/2015
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2020 - 01/2015
3	RNA Splice SitesIBA 01/2015 - 02/2011
2	Oxidopamine (6 Hydroxydopamine)IBA 09/2023 - 05/2022
2	Neurotransmitter Agents (Neurotransmitter)IBA 10/2022 - 08/2011
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 03/2022 - 01/2015
2	AcetylcholinesteraseIBA 01/2022 - 03/2018
2	6-chlorotacrineIBA 01/2022 - 03/2018
2	Biomarkers (Surrogate Marker)IBA 04/2021 - 01/2017
2	Amyloid (Amyloid Fibrils)IBA 03/2021 - 01/2017
2	CholesterolIBA 01/2020 - 01/2017
2	Polysaccharides (Glycans)IBA 01/2019 - 05/2013
2	voltage-dependent calcium channel (P-Q type)IBA 01/2019 - 02/2018
2	Cholinesterase Inhibitors (Anticholinesterases)IBA 03/2018 - 01/2017
2	Amino Acids FDA Link 01/2018 - 08/2009
2	HomocysteineIBA 01/2013 - 05/2006
2	Methylmalonyl-CoA MutaseIBA 03/2007 - 07/2006
1	Histone Deacetylases (Histone Deacetylase)IBA 02/2024
1	CytokinesIBA 02/2024
1	Vorinostat FDA Link 02/2024
1	imidazoleIBA 09/2023
1	Coloring Agents (Dyes)IBA 03/2023
1	Periodic AcidIBA 03/2023
1	oxidized low density lipoproteinIBA 02/2023
1	4-phenylbutyric acid (Buphenyl)FDA Link 01/2023
1	Epinephrine (Adrenaline)FDA LinkGeneric 01/2023
1	Dopamine (Intropin)FDA LinkGeneric 01/2023
1	Phosphopantothenoyl-cysteine decarboxylaseIBA 01/2023
1	Serotonin (5 Hydroxytryptamine)IBA 01/2023
1	Coenzyme A (CoA)IBA 01/2023
1	ursodoxicoltaurineIBA 01/2023
1	Norepinephrine (Noradrenaline)FDA LinkGeneric 01/2023
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2023
1	Apolipoproteins E (ApoE)IBA 01/2023
1	ApolipoproteinsIBA 01/2023
1	Allopurinol (Remid)FDA LinkGeneric 11/2022
1	Analgesics (Analgesic Drugs)IBA 10/2022

Therapy/Procedure

8	Therapeutics 11/2022 - 06/2012
4	Oral Administration 09/2023 - 11/2004
2	Aftercare (After-Treatment) 09/2023 - 05/2022