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3401 Civic Center BlvdPhiladelphia, PA 19104
Phone+1 215-590-2920
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Summary
- Dr. Sarah Donoghue, MD is a medical geneticist in Philadelphia, Pennsylvania.
Publications & Presentations
PubMed
- 3 citationsDistinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.Lauren S Akesson, Rocio Rius, Natasha J Brown, Jeremy Rosenbaum, Sarah Donoghue
JIMD Reports. 2022-05-01 - 12 citationsEarly‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literatureOliver Heath, James Pitt, Simone Mandelstam, Carl A Kuschel, Anand Vasudevan
JIMD Reports. 2021-03-01 - 9 citationsGalactose treatment of a PGM1 patient presenting with restrictive cardiomyopathySarah Donoghue, Susan M. White, Tiong Yang Tan, Remi Kowalski, Eva Morava
JIMD Reports. 2021-01-05
