Carolina Fischinger Moura de Souza

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

E. Malfatti, Marianna Bugiani, Federica Invernizzi et al. · Brain · 2007 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman et al. · The American Journal of Human Genetics · 2016 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Same-day initiation of oral pre-exposure prophylaxis among gay, bisexual, and other cisgender men who have sex with men and transgender women in Brazil, Mexico, and Peru (ImPrEP): a prospective, single-arm, open-label, multicentre implementation study

Valdiléa G. Veloso, Carlos Cáceres, Brenda Hoagland et al. · The Lancet HIV · 2022 · 80 citations · Full text

Public Health, Infectious Disease Control, Preventive Medicine +17

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian et al. · Genetics in Medicine · 2022 · 65 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +15

Selective screening for organic acidemias by urine organic acid GC–MS analysis in Brazil: Fifteen-year experience

Moaçir Wajner, Daniella de Moura Coelho, Rafaela Ingrassia et al. · Clinica Chimica Acta · 2008 · 61 citations

Life Sciences, Biochemistry, Analytical Chemistry +8