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Belén Pérez-Dueñas Selected Research

pyrimidine

1/2019Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

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Belén Pérez-Dueñas Research Topics

Disease

7Ataxia (Dyssynergia)
11/2022 - 10/2015
6Atrophy
01/2022 - 12/2010
6Brain Diseases (Brain Disorder)
01/2019 - 11/2007
5Dystonia (Limb Dystonia)
11/2022 - 09/2012
5Nervous System Diseases (Neurological Disorders)
01/2016 - 12/2010
4Parkinsonian Disorders (Parkinsonism)
01/2023 - 01/2020
4Cerebellar Diseases (Cerebellar Syndrome)
12/2018 - 10/2015
4Inborn Genetic Diseases (Disease, Hereditary)
12/2012 - 11/2008
3Leigh Disease (Leigh's Disease)
01/2021 - 06/2014
3Necrosis
01/2019 - 05/2011
2Tremor (Tremors)
01/2023 - 11/2005
2Movement Disorders (Movement Disorder)
01/2023 - 10/2018
2Hyperkinesis
11/2022 - 10/2018
2Chorea (Rheumatic Chorea)
11/2022 - 10/2022
2Basal Ganglia Diseases (Basal Ganglia Disease)
01/2022 - 06/2014
2Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 05/2011
2Epilepsy (Aura)
01/2020 - 06/2009
2Cognitive Dysfunction
01/2019 - 07/2012
2Seizures (Absence Seizure)
01/2019 - 06/2009
2Phenylketonurias (Phenylketonuria)
12/2005 - 12/2004
1Neurodevelopmental Disorders
01/2023
1Gliosis
10/2022
1Autistic Disorder (Autism)
10/2022
1Episodic Ataxia
10/2022
1Disease Progression
01/2022
1Myoclonic dystonia
08/2021
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
03/2021
1Bacterial Infections (Bacterial Infection)
10/2020
1Neuroinflammatory Diseases
10/2020
1Paraplegia (Spastic Paraplegia)
01/2020
1Pallidopyramidal syndrome
01/2020
1Thiamine responsive megaloblastic anemia syndrome
01/2019
1Anemia
01/2019
1Megaloblastic Anemia
01/2019
1Diabetes Mellitus
01/2019
1Hypertrophy
01/2019
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2019
1Intellectual Disability (Idiocy)
01/2019
1Hearing Loss (Hearing Impairment)
01/2019
1Dihydropyrimidine Dehydrogenase Deficiency
01/2019
1Dysarthria (Spastic Dysarthria)
12/2018
1Channelopathies
02/2018
1Migraine with Aura (Familial Hemiplegic Migraine)
02/2018
1Stroke (Strokes)
02/2018
1Thiamine Deficiency
09/2017
1Infections
01/2016
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
10/2015
1Sepsis (Septicemia)
06/2014
1Tics (Tic)
03/2014
1Lactic Acidosis
05/2013
1Infantile Spasms (West Syndrome)
09/2012
1biotin-responsive Basal ganglia disease
09/2012
1Menkes Kinky Hair Syndrome (Menkes Disease)
07/2012

Drug/Important Bio-Agent (IBA)

6Thiamine (Aneurin)FDA Link
01/2019 - 09/2012
6Congenital disorder of glycosylation type 1AIBA
12/2018 - 10/2015
6phosphomannomutaseIBA
12/2018 - 10/2015
5Biotin (Vitamin H)FDA Link
01/2016 - 05/2011
3Proteins (Proteins, Gene)FDA Link
11/2022 - 01/2020
3Neurotransmitter Agents (Neurotransmitter)IBA
11/2022 - 11/2008
3IronIBA
10/2022 - 01/2019
3Biomarkers (Surrogate Marker)IBA
01/2022 - 01/2016
3Folic Acid (Vitamin M)FDA LinkGeneric
12/2012 - 12/2010
2Levodopa (L Dopa)FDA LinkGeneric
01/2023 - 01/2020
2Valine (L-Valine)FDA Link
01/2022 - 01/2021
2Homovanillic AcidIBA
01/2020 - 06/2013
2Dopamine (Intropin)FDA LinkGeneric
01/2020 - 11/2008
2EnzymesIBA
09/2017 - 03/2010
2AcidsIBA
09/2017 - 12/2010
2Lactic Acid (Lactate)FDA LinkGeneric
09/2017 - 05/2013
2Oxidoreductases (Dehydrogenase)IBA
01/2012 - 05/2011
1Ligases (Synthetase)IBA
01/2023
1Transfer RNA (tRNA)IBA
01/2023
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
11/2022
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
11/2022
1Dopamine Agents (Dopaminergic Agents)IBA
11/2022
1Acetazolamide (Diamox)FDA LinkGeneric
10/2022
1InterferonsIBA
01/2022
1Mitochondrial DNA (mtDNA)IBA
01/2022
1Sarcoglycans (beta Sarcoglycan)IBA
08/2021
1SpectrinIBA
03/2021
1NeopterinIBA
10/2020
1ClathrinIBA
01/2020
1AuxilinsIBA
01/2020
1ThymineIBA
01/2019
1pyrimidineIBA
01/2019
1Dihydrouracil Dehydrogenase (NADP) (Dihydropyrimidine Dehydrogenase)IBA
01/2019
1voltage-dependent calcium channel (P-Q type)IBA
02/2018
1Keto AcidsIBA
09/2017
1Ketoglutaric Acids (Ketoglutaric Acid)IBA
09/2017
1biotin 1IBA
06/2014
1Biogenic Amines (Biogenic Amine)IBA
06/2013
1Branched-Chain Amino AcidsIBA
05/2013
1Isoleucine (L-Isoleucine)FDA Link
05/2013
1Leucine (L-Leucine)FDA Link
05/2013

Therapy/Procedure

3Therapeutics
11/2022 - 01/2012
2Deep Brain Stimulation
11/2022 - 10/2018
1Ketogenic Diet
11/2022
1Fat-Restricted Diet (Diet, Fat Restricted)
01/2022
1Electrodes (Electrode)
10/2018
1Activities of Daily Living (ADL)
03/2014