Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

por Ziegler, Shira G., Kim, Jiyoung, Ehmsen, Jeffrey T., Vernon, Hilary J.
Publicado 2023

PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review

por A. Almuqbil, Mohammed, Vernon, Hilary J., Ferguson, Marcia, Kline, Antonie D.
Publicado 2020

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

por Hornby, Brittany, McClellan, Rebecca, Buckley, Lucy, Carson, Kimberley, Gooding, Tiffany, Vernon, Hilary J.
Publicado 2019

Cardiolipin, Mitochondria, and Neurological Disease

por Falabella, Micol, Vernon, Hilary J., Hanna, Michael G., Claypool, Steven M., Pitceathly, Robert D.S.
Publicado 2021

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

por Kim, Jiyoung, Pipitone Dempsey, Angela, Kim, Sun Young, Gunay-Aygun, Meral, Vernon, Hilary J.
Publicado 2022

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function

por Sandlers, Yana, Mercier, Kelly, Pathmasiri, Wimal, Carlson, Jim, McRitchie, Susan, Sumner, Susan, Vernon, Hilary J.
Publicado 2016

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardi...

por Reid Thompson, W., Hornby, Brittany, Manuel, Ryan, Bradley, Elena, Laux, Janice, Carr, Jim, Vernon, Hilary J.
Publicado 2020

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome

por Hornby, Brittany, Thompson, William Reid, Almuqbil, Mohammed, Manuel, Ryan, Abbruscato, Anthony, Carr, Jim, Vernon, Hilary J.
Publicado 2022

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

por Pavuluri, KowsalyaDevi, Manoli, Irini, Pass, Alexandra, Li, Yuguo, Vernon, Hilary J., Venditti, Charles P., McMahon, Michael T.
Publicado 2019

Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

por Zarate, Yuri A., Vernon, Hilary J., Bosanko, Katherine A., Ramani, Praveen K., Gokden, Murat, Writzl, Karin, Meznaric, Marija, Vipotnik Vesnaver, Tina, Ramakrishnaiah, Raghu, Osredkar, Damjan
Publicado 2021

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

por Cade, W. Todd, Bohnert, Kathryn L., Bittel, Adam J., Chacko, Shaji J., Patterson, Bruce W., Pacak, Christina A., Byrne, Barry J., Vernon, Hilary J., Reeds, Dominic N.
Publicado 2020

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

por Vaz, Frédéric M., van Lenthe, Henk, Vervaart, Martin A. T., Stet, Femke S., Klinkspoor, Johanne H., Vernon, Hilary J., Goorden, Susan M. I., Houtkooper, Riekelt H., Kulik, Willem, Wanders, Ronald J. A.
Publicado 2021

Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules

por Anzmann, Arianna F., Sniezek, Olivia L., Pado, Alexandra, Busa, Veronica, Vaz, Frédéric M., Kreimer, Simion D., DeVine, Lauren R., Cole, Robert N., Le, Anne, Kirsch, Brian J., Claypool, Steven M., Vernon, Hilary J.
Publicado 2021

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

por Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hilary J., McClellan, Rebecca, Krishnamurthy, Vidya, Vitazka, Patrik, Millan, Francisca, Chung, Wendy K.
Publicado 2015