Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marcela Garcia Alvarez"'
Autor:
Darryl C. De Vivo, Jörg Klepper, Michael K. Parides, Kevin R. O'Driscoll, Yuan Yuan Ho, Dong Wang, Marcela Garcia-Alvarez
Publikováno v:
Journal of Clinical Laboratory Analysis. 13:116-121
Glucose transport into the brain is mediated by a facilitative glucose‐transporter protein, GLUT‐1. A GLUT‐1 defect results in the Glucose‐Transporter‐Protein Syndrome (GTPS), characterized by infantile epilepsy, developmental delay, and ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d1e2bd98effe1474c88e3a5755af49a
https://doi.org/10.1002/(sici)1098-2825(1999)13:3<116::aid-jcla5>3.0.co
https://doi.org/10.1002/(sici)1098-2825(1999)13:3<116::aid-jcla5>3.0.co
Autor:
Marcela Garcia Alvarez, Darryl C. De Vivo, Pamela Kranz-Eble, Kwan-Fu Rex Sheu, Tatsuya Fujii
Publikováno v:
Pediatric Neurology. 14:328-334
We report 7 patients with pyruvate dehydrogenase (PDH) deficiency caused by mutations of the PDH-E1 alpha subunit. Each patient had a different mutation; 4 with duplicate insertions, 1 with a deletion of tandem repeat, and 2 with point mutations. Fiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f96c92492e5ef5708733908c4861a1
https://doi.org/10.1016/0887-8994(96)00058-6
https://doi.org/10.1016/0887-8994(96)00058-6
Autor:
M. Duran, Marta Fusta, Marcela Garcia Alvarez, Wim Ruitenbeek, Jan A.J.M. Bakkeren, B. T. Poll-The, Néstor A. Chamoles, Roberto Carballo, J Smeitink
Publikováno v:
Pediatric Neurology. 8:391
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d174aaf6546b988c8043c0cbd9cb15a7
https://doi.org/10.1016/0887-8994(92)90269-5
https://doi.org/10.1016/0887-8994(92)90269-5