Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria

por Perales‐Clemente, Ester, Hewitt, Angela L., Studinski, April L., Tillema, Jan‐Mendelt, Laxen, William J., Oglesbee, Devin, Graff, Arne H., Rinaldo, Piero, Lanpher, Brendan C.
Publicado 2020

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

por Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Publicado 2021

Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas

por Riviere-Cazaux, Cecile, Lacey, Jean M, Carlstrom, Lucas P, Laxen, William J, Munoz-Casabella, Amanda, Hoplin, Matthew D, Ikram, Samar, Zubair, Abdullah Bin, Andersen, Katherine M, Warrington, Arthur E, Decker, Paul A, Kaufmann, Timothy J, Campian, Jian L, Eckel-Passow, Jeanette E, Kizilbash, Sani H, Tortorelli, Silvia, Burns, Terry C
Publicado 2023

Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

por Sabharwal, Ankit, Wishman, Mark D, Cervera, Roberto Lopez, Serres, MaKayla R, Anderson, Jennifer L, Holmberg, Shannon R, Kar, Bibekananda, Treichel, Anthony J, Ichino, Noriko, Liu, Weibin, Yang, Jingchun, Ding, Yonghe, Deng, Yun, Lacey, Jean M, Laxen, William J, Loken, Perry R, Oglesbee, Devin, Farber, Steven A, Clark, Karl J, Xu, Xiaolei, Ekker, Stephen C
Publicado 2022