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

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

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

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

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

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