Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Carolina Fischinger de Souza"'
Autor:
Cristina Pereira, Carolina Fischinger de Souza, Leonardo Vedolin, Filippo Vairo, Cláudia Lorea, Cláudia Sobreira, Célia Nogueira, Laura Vilarinho
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid dete
Externí odkaz:
https://doaj.org/article/ce40c206914844c1962e64438f2b8b31
Autor:
Pereira, Denise Rotta Ruttkay, Schweiger, Claudia, de Souza, Carolina F., Fagondes, Simone, Manica, Denise, Giugliani, Roberto, Kuhl, Gabriel, Marostica, Paulo J. C.
Publikováno v:
JIMD Reports, Volume 29; 2016, p53-58, 6p
Autor:
Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or bioch
