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Office
300 Longwood Ave
Boston, MA 02115Phone+1 617-355-6000
Education & Training
Faculty Of Medical Sciences of Santa Casa De Sao Paulo
Certifications & Licensure
MA State Medical License 2023 - 2026
PA State Medical License 2021 - 2024
Publications & Presentations
PubMed
- 6 citationsBi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer A. Sullivan, Vandana Shashi
Human Mutation. 2021-05-11 - 15 citationsIntracranial calcifications in childhood: Part 1Fabrício Guimarães Gonçalves, Luca Caschera, Sara Reis Teixeira, Angela N. Viaene, Lorenzo Pinelli
Pediatric Radiology. 2020-07-30 - 8 citationsMalate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves
Molecular Genetics and Metabolism Reports. 2022-12-01
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