Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore

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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor von Wortmann, Saskia B., Van Hove, Johan L.K., Derks, Terry G.J., Chevalier, Nathalie, Knight, Vijaya, Koller, Andreas, Oussoren, Esmee, Mayr, Johannes A., van Spronsen, Francjan J., Lagler, Florian B., Gaughan, Sommer, Van Schaftingen, Emile, Veiga-da-Cunha, Maria

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The role of NMDA-receptor type glutamatergic antagonists dextromethorphan or ketamine in the treatment of nonketotic hyperglycinemia: A critical reassessment von Van Hove, Johan L.K.

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Case definition and classification of leukodystrophies and leukoencephalopathies von Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Marc C., Van Hove, Johan L.K., Schmidt, Johanna, Wolf, Nicole I., Boespflug-Tanguy, Odile, Schiffmann, Raphael, van der Knaap, Marjo S.

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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment von Balderas, Enrique, Eberhardt, David R., Lee, Sandra, Pleinis, John M., Sommakia, Salah, Balynas, Anthony M., Yin, Xue, Parker, Mitchell C., Maguire, Colin T., Cho, Scott, Szulik, Marta W., Bakhtina, Anna, Bia, Ryan D., Friederich, Marisa W., Locke, Timothy M., Van Hove, Johan L. K., Drakos, Stavros G., Sancak, Yasemin, Tristani-Firouzi, Martin, Franklin, Sarah, Rodan, Aylin R., Chaudhuri, Dipayan

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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype von Van Hirtum, Liesbet D F M, Van Damme, Tine, Van Hove, Johan L K, Steyaert, Jean G

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Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation von Kendrick, Agnieszka A, Choudhury, Mahua, Rahman, Shaikh M, McCurdy, Carrie E, Friederich, Marisa, Van Hove, Johan L K, Watson, Peter A, Birdsey, Nicholas, Bao, Jianjun, Gius, David, Sack, Michael N, Jing, Enxuan, Kahn, C Ronald, Friedman, Jacob E, Jonscher, Karen R

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 von Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.

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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up von Stockler, Sylvia, Plecko, Barbara, Gospe, Jr, Sidney M, Coulter-Mackie, Marion, Connolly, Mary, van Karnebeek, Clara, Mercimek-Mahmutoglu, Saadet, Hartmann, Hans, Scharer, Gunter, Struijs, Eduard, Tein, Ingrid, Jakobs, Cornelis, Clayton, Peter, Van Hove, Johan L K

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy von Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., Van Hove, Johan L. K.

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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease von Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood‐Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.

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Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 von BAKER, Peter R, FRIEDERICH, Marisa W, LEE, Wang-Tso, DESHPANDE, Charu, FRECKMANN, Mary-Louise, SHIH, Ling-Yu, WASSERSTEIN, Melissa, RASMUSSEN, Malene B, LUND, Allan M, PROCOPIS, Peter, CAMERON, Jessie M, ROBINSON, Brian H, SWANSON, Michael A, BROWN, Garry K, BROWN, Ruth M, COMPTON, Alison G, DIECKMANN, Carol L, COLLARD, Renata, COUGHLIN, Curtis R, SPECTOR, Elaine, WEMPE, Michael F, VAN HOVE, Johan L. K, SHAIKH, Tamim, BHATTACHARYA, Kaustuv, SCHARER, Gunter H, AICHER, Joseph, CREADON-SWINDELL, Geralyn, GEIGER, Elizabeth, MACLEAN, Kenneth N

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Prediction of long-term outcome in glycine encephalopathy: a clinical survey von Hennermann, Julia B., Berger, Jeanne-Marie, Grieben, Ulrike, Scharer, Gunter, Van Hove, Johan L. K.

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Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype von Stence, Nicholas V., Fenton, Laura Z., Levek, Claire, Tong, Suhong, Coughlin, Curtis R., Hennermann, Julia B., Wortmann, Saskia B., Van Hove, Johan L.K.

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Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening von Wempe, Michael F., Kumar, Amit, Kumar, Vijay, Choi, Yu J., Swanson, Michael A., Friederich, Marisa W., Hyland, Keith, Yue, Wyatt W., Van Hove, Johan L. K., Coughlin, Curtis R.

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Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia von Swanson, Michael A., Miller, Kristen, Young, Sarah P., Tong, Suhong, Ghaloul‐Gonzalez, Lina, Neira‐Fresneda, Juanita, Schlichting, Lisa, Peck, Cheryl, Gabel, Linda, Friederich, Marisa W., Van Hove, Johan L. K.

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Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG von Ligezka, Anna N, Budhraja, Rohit, Nishiyama, Yurika, Fiesel, Fabienne C, Preston, Graeme, Edmondson, Andrew, Ranatunga, Wasantha, Van Hove, Johan L K, Watzlawik, Jens O, Springer, Wolfdieter, Pandey, Akhilesh, Morava, Eva, Kozicz, Tamas

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children von Starr, Michelle C., Chang, Irene J., Finn, Laura S., Sun, Angela, Larson, Austin A., Goebel, Jens, Hanevold, Coral, Thies, Jenny, Van Hove, Johan L. K., Hingorani, Sangeeta R., Lam, Christina

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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia von Swanson, Michael A., Coughlin Jr, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon-Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.

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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels von Shelkowitz, Emily, Saneto, Russell P, Al-Hertani, Walla, Lubout, Charlotte M A, Stence, Nicholas V, Brown, Mark S, Long, Patrick, Walleigh, Diana, Nelson, Julie A, Perez, Francisco E, Shaw, Dennis W W, Michl, Emma J, Van Hove, Johan L K

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