Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Joaquín Arcas"'
Autor:
Gabriela, Pesántez-Ríos, Antonio, Martínez-Bermejo, Joaquín, Arcas, Milagros, Merino-Andreu, Arturo, Ugalde-Canitrot
Publikováno v:
Revista de neurologia. 61(3)
The development of atypical features in rolandic epilepsy is part of a clinical spectrum of phenotypes that are variable, idiopathic and age-dependent, as well as having a genetically determined predisposition.To study the electroclinical characteris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8404f966fa11fe2d5f0dbf4dcb0732cd
https://pubmed.ncbi.nlm.nih.gov/26178515
https://pubmed.ncbi.nlm.nih.gov/26178515
Autor:
Patrick O'Neill, Teresa H. Ramos, Joaquín Arcas, Juan G. Puig, Felícitas A. Mateos, Antonio Buño, Rosa J. Torres
Publikováno v:
Medicine. 80:102-112
The enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyzes the reutilization of hypoxanthine and guanine to the purine nucleotides IMP and GMP, respectively. HPRT deficiency is an X-linked disorder characterized by uric acid overprodu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fd32188a795401dde9dcda99503971
https://doi.org/10.1097/00005792-200103000-00003
https://doi.org/10.1097/00005792-200103000-00003
Autor:
Felícitas A. Mateos, Juan G. Puig, Antonio Buño, Joaquín Arcas, Teresa H. Ramos, Rosa J. Torres
Publikováno v:
Purine and Pyrimidine Metabolism in Man X ISBN: 0306465159
Summary The enzyme hypoxanthine-guanine phosphoribo-syltransferase (HPRT) catalyzes the reutilization ofhypoxanthine and guanine to the purine nucleotidesIMP and GMP, respectively. HPRT deficiency is an X-linked disorder characterized by uric acid o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8f3041163d9e9c326280c34e5236868
https://doi.org/10.1007/0-306-46843-3_4
https://doi.org/10.1007/0-306-46843-3_4
Autor:
Felícitas A. Mateos, Antonio Buño, Juan G. Puig, Ignacio Pascual-Castroviejo, Joaquín Arcas, Rosa J. Torres
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461374565
Patients with HGPRT deficiency may be phenotypically classified into two differentiated entities: (a) Lesch-Nyhan syndrome, also named “complete HGPRT deficiency”, characterized by spasticity, choreoathetosis, mental retardation, and self-mutilat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::499120f49af6d0031d686aaecdc27c31
https://doi.org/10.1007/978-1-4615-5381-6_5
https://doi.org/10.1007/978-1-4615-5381-6_5
Autor:
Antonio Martínez Bermejo, Isabel Polanco Allué, Alfredo Royo, Valentín López Martín, Joaquín Arcas Martínez, Adrián Tendero Gormaz, Alberto Fernández Jaén, Ignacio Pascual Castroviejo
Publikováno v:
Revista de Neurología. 29:105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73c6e194a349723513d603a704559d25
https://doi.org/10.33588/rn.2902.99144
https://doi.org/10.33588/rn.2902.99144