Zobrazeno 1 - 10 of 347 pro vyhledávání: '"Fernández Alvarez E"'
1
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal
Autor: Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP
Publikováno v: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
OBJECTIVE: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. METHODS: We stu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0dcc87d70262daaea72289799640167a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14881
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2
Akademický článek
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3
Inhibition of catechol-O-methyltransferase by 1-vinyl derivatives of nitrocatechols and nitroguaiacols
Autor: O. Nieto, F J Piedrafita, Fernández-Alvarez E, Raquel Pérez
Publikováno v: Biochemical Pharmacology. 45:1973-1981
It is well known that activated alkene derivatives react with thiol groups according to a Michael's addition reaction. On the basis of the presence of at least one thiol group essential for the activity of catechol-O-methyltransferase (COMT), several
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::131f4a724dd7b99d83084af440f99ee5
https://doi.org/10.1016/0006-2952(93)90006-i
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4
Inhibition of Catechol-O-Methyltransferase by N-(3,4-Dihydroxyphenyl) Maleimide
Autor: O. Nieto, F. J. Piedrafita, Fernández-Alvarez E, C. Elorriaga
Publikováno v: Journal of Enzyme Inhibition. 4:43-50
Catechol-O-methyltransferase (COMT) is inhibited rapidly and irreversibly by N-(3,4-dihydroxyphenyl) maleimide. S-adenosylmethionine (AdoMet) and magnesium ions protect the enzyme from inactivation by this compound, but no protection is observed by t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e8d152d7a725ac5c8756a4643d6f09
https://doi.org/10.3109/14756369009030387
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5
Akademický článek
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6
Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier
Autor: ORMAZABAL, A., GARCÍA CAZORLA, A., PÉREZ DUEÑAS, B., PINEDA, M., RUIZ, A., LÓPEZ LASO, E., GARCÍA SILVA, M., CARILHO, I., BARBOT, C., CORMAND, B., RIBASES, M., MOLLER, L., FERNÁNDEZ ALVAREZ, E., CAMPISTOL, J., ARTUCH, R.
Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] Ormazaba
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9
Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Autor: Fernández-Alvarez E, Garcia-Cazorla A, Sans A, Boix Lluch C, Vilaseca, A, Busquets, C, Ribes, A
Publikováno v: MOVEMENT DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::135c341db1813ac10ef9954269816d4d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7835
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10
Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct
Autor: Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol-Plana J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A
Publikováno v: PEDIATRIC RESEARCH
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Scopus-Elsevier
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studi
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http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7924
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