Carolina Fischinger Moura De Souza

Carolina Fischinger Moura De Souza

Universidade Federal do Rio Grande do Sul UFRGS - Porto Alegre / Brazil
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4962577
Federal University of Rio Grande do Sul UFRGS
person_outline Carolina Fischinger Moura De Souza's MOST POPULAR ARTICLES
1-) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy E Malfatti, M Bugiani, F Invernizzi, CFM de Souza, L Farina, F Carrara, ... Brain 130 (7), 1894-1904, 2007 1492007
2-) Natural history of vanishing white matterEMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...Annals of neurology 84 (2), 274-288, 20181072018
3-) Triagem neonatal de distúrbios metabólicosCF Souza, IV Schwartz, R GiuglianiCiência & Saúde Coletiva 7, 129-137, 20021062002
4-) Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and inherited disorders of gluconeogenesisDA Weinstein, U Steuerwald, CFM De Souza, TGJ DerksPediatric Clinics 65 (2), 247-265, 2018972018
5-) GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disabilityEM Lodder, P De Nittis, CD Koopman, W Wiszniewski, CFM de Souza, ...The American Journal of Human Genetics 99 (3), 704-710, 2016742016