Zobrazeno 1 - 10
of 278
pro vyhledávání: '"C, Pérez Cerdá"'
Autor:
M. Jiménez Legido, C. Cortés Ledesma, B. Bernardino Cuesta, L. López Marín, V. Cantarín Extremera, C. Pérez-Cerdá, B. Pérez González, E. López Martín, L. González Gutiérrez-Solana
Publikováno v:
Neurología, Vol 37, Iss 2, Pp 91-100 (2022)
Resumen: Introducción: El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presenta hipoglucorraquia y/o defe
Externí odkaz:
https://doaj.org/article/6c9ca96478384ceba038176cb16093ca
Publikováno v:
Neurología. 34:139-141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f768c20bd2b1630aa2ea434f91d708c
https://doi.org/10.1016/j.nrl.2017.05.002
https://doi.org/10.1016/j.nrl.2017.05.002
Publikováno v:
Neurología (English Edition). 34:139-141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78da1cb4042025194be128300822a4b8
https://doi.org/10.1016/j.nrleng.2017.05.002
https://doi.org/10.1016/j.nrleng.2017.05.002
Autor:
M, Jiménez Legido, C, Cortés Ledesma, B, Bernardino Cuesta, L, López Marín, V, Cantarín Extremera, C, Pérez-Cerdá, B, Pérez González, E, López Martín, L, González Gutiérrez-Solana
Publikováno v:
Repisalud
Instituto de Salud Carlos III (ISCIII)
Instituto de Salud Carlos III (ISCIII)
[EN] Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64bd50e5430c15bc9e123306aff271f7
https://pubmed.ncbi.nlm.nih.gov/35279228
https://pubmed.ncbi.nlm.nih.gov/35279228
Autor:
A, Gámez, P, Yuste-Checa, S, Brasil, Á, Briso-Montiano, L R, Desviat, M, Ugarte, C, Pérez-Cerdá, B, Pérez
Publikováno v:
Clinical genetics. 93(3)
Protein misfolding has been linked to numerous inherited diseases. Loss- and gain-of-function mutations (common features of genetic diseases) may cause the destabilization of proteins, leading to alterations in their properties and/or cellular locati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4491a9254e9609a4138a1063e52df25
https://pubmed.ncbi.nlm.nih.gov/28671287
https://pubmed.ncbi.nlm.nih.gov/28671287
Publikováno v:
Neurologia (Barcelona, Spain). 34(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::91fe5dd2edc48c6e90b72d18ca793e40
https://pubmed.ncbi.nlm.nih.gov/28712839
https://pubmed.ncbi.nlm.nih.gov/28712839
Autor:
F. Leal Pérez, M.J. Ecay Crespo, E. Martín Hernández, J. Manzanares López-Manzanares, C. Pérez-Cerdá Silvestre, A.I. Vega Pajares, B. Pérez González, M. Ugarte Pérez
Publikováno v:
Anales de Pediatría, Vol 69, Iss 4, Pp 358-365 (2008)
Los defectos congénitos de la glucosilación (CDG, por sus siglas en inglés) son enfermedades genéticas, en general multisistémicas, de herencia autosómica recesiva. Son causadas por defectos que afectan al ensamblaje, la transferencia o el proc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82fd92bb0a6e89c2820efa7fdddc467
https://doi.org/10.1157/13126562
https://doi.org/10.1157/13126562
Publikováno v:
Molecular Genetics and Metabolism. 75:276-279
Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6186aac64b338321d9b1a1acd3b72d08
https://doi.org/10.1006/mgme.2001.3296
https://doi.org/10.1006/mgme.2001.3296
Autor:
Carmen Fons, C. Boix, B. Pérez, R. Velázquez, Jordi Muchart, F. Carratalá, V. de Diego, C. Pérez-Cerdá, P Póo, M. Girós, Maria del Mar O’Callaghan, Mercedes Serrano, A. Macaya, A. Felipe, Belén Pérez-Dueñas, Angeles Garcia-Cazorla, Rafael Artuch, B. Robles
Publikováno v:
European Journal of Paediatric Neurology. 19:S3-S4
Objective To assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. Secondary objectives: To compare ICARS results with Nijmegen paediatric CDG rati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e5107ee299e2d855fb83ace155744c8
https://doi.org/10.1016/s1090-3798(15)30010-6
https://doi.org/10.1016/s1090-3798(15)30010-6
Publikováno v:
European Journal of Paediatric Neurology. 1:173-176
A boy with severe symptoms of biotinidase deficiency diagnosed at the age of 12 years showed a remarkable improvement of his neurological picture and normalization of brain magnetic resonance imaging abnormalities when prescribed oral biotin.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c8f3581f3e16e3d87ec8a741c59b0f
https://doi.org/10.1016/s1090-3798(97)80054-2
https://doi.org/10.1016/s1090-3798(97)80054-2