A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families von Ganapathi, Mythily, Friocourt, Gaelle, Gueguen, Naig, Friederich, Marisa W., Le Gac, Gerald, Okur, Volkan, Loaëc, Nadège, Ludwig, Thomas, Ka, Chandran, Tanji, Kurenai, Marcorelles, Pascale, Theodorou, Evangelos, Lignelli‐Dipple, Angela, Voisset, Cécile, Walker, Melissa A., Briere, Lauren C., Bourhis, Amélie, Blondel, Marc, LeDuc, Charles, Hagen, Jacob, Cooper, Cathleen, Muraresku, Colleen, Ferec, Claude, Garenne, Armelle, Lelez‐Soquet, Servane, Rogers, Cassandra A., Shen, Yufeng, Strode, Dana K., Bizargity, Peyman, Iglesias, Alejandro, Goldstein, Amy, High, Frances A., Network, Undiagnosed Diseases, Sweetser, David A., Ganetzky, Rebecca, Van Hove, Johan L. K., Procaccio, Vincent, Le Marechal, Cedric, Chung, Wendy K.

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Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases von Van Hove, Johan L K, Friederich, Marisa W, Strode, Dana K, Van Hove, Roxanne A, Miller, Kristen R, Sharma, Rohit, Shah, Hardik, Estrella, Jane, Gabel, Linda, Horslen, Simon, Kohli, Rohit, Lovell, Mark A, Miethke, Alexander G, Molleston, Jean P, Romero, Rene, Squires, James E, Alonso, Estella M, Guthery, Stephen L, Kamath, Binita M, Loomes, Kathleen M, Rosenthal, Philip, Mysore, Krupa R, Cavallo, Laurel A, Valentino, Pamela L, Magee, John C, Sundaram, Shikha S, Sokol, Ronald J

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