Carmen Espinós Selected Research

Glutathione synthetase deficiency

3/2015	New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
1/2013	5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

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Carmen Espinós Research Topics

Disease

4	Ataxia (Dyssynergia) 11/2022 - 11/2006
3	Hepatolenticular Degeneration (Wilson's Disease) 08/2021 - 08/2020
3	Coenzyme Q10 Deficiency 01/2015 - 07/2006
2	Rare Diseases (Rare Disease) 10/2020 - 04/2020
2	Friedreich Ataxia (Friedreich's Ataxia) 04/2020 - 11/2006
2	Polyneuropathies (Polyneuropathy) 12/2018 - 12/2017
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 12/2018 - 01/2015
2	Peripheral Nervous System Diseases (PNS Diseases) 12/2018 - 01/2018
2	Glutathione synthetase deficiency 03/2015 - 01/2013
2	Ataxia with vitamin E deficiency 09/2008 - 11/2006
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 03/2021
1	Neurodegeneration with brain iron accumulation (NBIA) 10/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 10/2020
1	Congenital Disorders of Glycosylation 08/2020
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 04/2020
1	Drug Resistant Epilepsy 04/2020
1	Pathologic Processes 04/2020
1	Retinal Dystrophies 04/2020
1	Parkinsonian Disorders (Parkinsonism) 01/2020
1	Pallidopyramidal syndrome 01/2020
1	Epilepsy (Aura) 01/2020
1	Paraplegia (Spastic Paraplegia) 01/2020
1	Hypertrophy 01/2019
1	Atrophy 01/2019
1	Carcinogenesis 01/2015
1	Type 2K Charcot-Marie-Tooth disease 12/2010
1	Type 4A Charcot-Marie-Tooth disease 12/2010
1	Type 4C Charcot-Marie-Tooth disease 12/2009
1	Paralysis (Palsy) 11/2008
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2008
1	Hemophilia A (Haemophilia) 07/2008
1	autosomal recessive 1 Spinocerebellar ataxia 11/2006
1	Abetalipoproteinemia (Bassen Kornzweig Syndrome) 11/2006
1	Cerebellar Ataxia (Dysmetria) 07/2006
1	Hemophilia B (Haemophilia B) 02/2003

Drug/Important Bio-Agent (IBA)

4	IronIBA 10/2020 - 01/2019
3	Proteins (Proteins, Gene)FDA Link 11/2022 - 12/2009
3	CopperIBA 08/2021 - 08/2020
2	Pyroglutamate Hydrolase (5 Oxoprolinase)IBA 03/2015 - 01/2013
2	coenzyme Q10 (CoQ10)IBA 01/2015 - 07/2006
2	GDAP proteinIBA 12/2010 - 11/2008
2	alpha-tocopherol transfer proteinIBA 09/2008 - 11/2006
1	SpectrinIBA 03/2021
1	Levodopa (L Dopa)FDA LinkGeneric 01/2020
1	Metalloendopeptidases (Metalloendopeptidase)IBA 12/2018
1	MMEIBA 12/2018
1	Histidine-tRNA LigaseIBA 01/2018
1	Apoptosis Inducing FactorIBA 12/2017
1	Histones (Histone)IBA 01/2015
1	junctophilinIBA 01/2015
1	Glutathione (Reduced Glutathione)IBA 01/2013
1	Glutathione Synthase (Glutathione Synthetase)IBA 01/2013
1	EnzymesIBA 01/2013
1	ApolipoproteinsIBA 09/2008
1	Vitamin E FDA LinkGeneric 09/2008
1	Factor VIII (Coagulation Factor VIII)IBA 07/2008
1	FrataxinIBA 11/2006
1	Pharmaceutical PreparationsIBA 11/2006
1	A-Form DNA (A-DNA)IBA 11/2006
1	4-hydroxybenzoic acid (p-hydroxybenzoate)IBA 07/2006
1	prenylIBA 07/2006
1	Factor IX (Coagulation Factor IX)FDA LinkGeneric 02/2003

Therapy/Procedure

1	Therapeutics 04/2020