Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine

por Ganetzky, Rebecca D., Falk, Marni J.
Publicado 2018

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

por Wongkittichote, Parith, Cuddapah, Sanmati R., Master, Stephen R., Grange, Dorothy K., Dietzen, Dennis, Roper, Stephen M., Ganetzky, Rebecca D.
Publicado 2023

Congenital hypermetabolism and uncoupled oxidative phosphorylation

por Ganetzky, Rebecca D., Markhard, Andrew L., Yee, Irene, Clever, Sheila, Cahill, Alan, Shah, Hardik, Grabarek, Zenon, To, Tsz-Leung, Mootha, Vamsi K.
Publicado 2022

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

por Priestley, Jessica R. C., Alharbi, Hana, Callahan, Katharine Press, Guzman, Herodes, Payan-Walters, Irma, Smith, Ligia, Ficicioglu, Can, Ganetzky, Rebecca D., Ahrens-Nicklas, Rebecca C.
Publicado 2020

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

por Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas
Publicado 2020

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

por Priestley, Jessica R.C., Pace, Lisa M., Sen, Kuntal, Aggarwal, Anjali, Alves, Cesar Augusto P.F., Campbell, Ian M., Cuddapah, Sanmati R., Engelhardt, Nicole M., Eskandar, Marina, Jolín García, Paloma C., Gropman, Andrea, Helbig, Ingo, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.
Publicado 2022

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic a...

por Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.
Publicado 2023