Belén Pérez-Dueñas Selected Research

Demyelinating Diseases (Demyelinating Disease)

7/2012

Novel features in the evolution of adenylosuccinate lyase deficiency.

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Belén Pérez-Dueñas Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

6	Thiamine (Aneurin)FDA Link 01/2019 - 09/2012
6	Congenital disorder of glycosylation type 1AIBA 12/2018 - 10/2015
6	phosphomannomutaseIBA 12/2018 - 10/2015
5	Biotin (Vitamin H)FDA Link 01/2016 - 05/2011
3	Proteins (Proteins, Gene)FDA Link 11/2022 - 01/2020
3	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2016
3	Folic Acid (Vitamin M)FDA LinkGeneric 12/2012 - 12/2010
2	IronIBA 01/2020 - 01/2019
2	Dopamine (Intropin)FDA LinkGeneric 01/2020 - 11/2008
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2020 - 11/2008
2	Homovanillic AcidIBA 01/2020 - 06/2013
2	AcidsIBA 09/2017 - 12/2010
2	EnzymesIBA 09/2017 - 03/2010
2	Lactic Acid (Lactate)FDA LinkGeneric 09/2017 - 05/2013
2	Pharmaceutical PreparationsIBA 10/2015 - 07/2012
2	Oxidoreductases (Dehydrogenase)IBA 01/2012 - 05/2011
1	Mitochondrial DNA (mtDNA)IBA 01/2022
1	InterferonsIBA 01/2022
1	Sarcoglycans (beta Sarcoglycan)IBA 08/2021
1	SpectrinIBA 03/2021
1	Valine (L-Valine)FDA Link 01/2021
1	NeopterinIBA 10/2020
1	ClathrinIBA 01/2020
1	Levodopa (L Dopa)FDA LinkGeneric 01/2020
1	AuxilinsIBA 01/2020
1	pyrimidineIBA 01/2019
1	Dihydrouracil Dehydrogenase (NADP) (Dihydropyrimidine Dehydrogenase)IBA 01/2019
1	ThymineIBA 01/2019
1	voltage-dependent calcium channel (P-Q type)IBA 02/2018
1	Ketoglutaric Acids (Ketoglutaric Acid)IBA 09/2017
1	Keto AcidsIBA 09/2017
1	biotin 1IBA 06/2014
1	Biogenic Amines (Biogenic Amine)IBA 06/2013
1	Leucine (L-Leucine)FDA Link 05/2013
1	Branched-Chain Amino AcidsIBA 05/2013
1	Isoleucine (L-Isoleucine)FDA Link 05/2013
1	CopperIBA 07/2012
1	Ribose (D-Ribose)IBA 07/2012
1	Adenylosuccinate lyase deficiencyIBA 07/2012
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2012
1	Growth Hormone (Somatotropin)IBA 01/2012
1	Insulin-Like Growth Factor I (IGF-1)IBA 01/2012
1	GlucocorticoidsIBA 01/2012

Therapy/Procedure

2	Therapeutics 07/2012 - 01/2012
1	Electrodes (Electrode) 10/2018
1	Deep Brain Stimulation 10/2018
1	Activities of Daily Living (ADL) 03/2014