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Johan L.K. Van Hove

university of colorado anschutz medical campus

45H-index
139Paper Count
6.8KCitation Count
Published Papers 67
Publication Date
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency
err2026-01-28
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errMichael A. Swanson; Hua Jiang; Lakshmi Divya Kolora; Rachel Molino; Richard Reisdorph; Cole R. Michel; Katrina A. Doenges; Kit-Yi Leung; Xiangping Lin; Frank Wong; Samual Lancaster; Basil Michael; Michael Snyder; Daniella H. Hock; David A. Stroud; Tim Wood; Robert Binard; Laura Anderson-Lehman; Uwe Christians; Erland Arning; Marisa W. Friederich; Roxanne A. Van Hove; Kenneth N. MacLean; Nicholas D. E. Greene; Johan L. K. Van Hove
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In memoriam: Stephen G. Kahler, MD
err2025-08-05
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PREAI
errJohan L.K. Van Hove; Priya S. Kishnani; David S. Millington; Dietrich Matern; Ayesha Ahmad
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Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
err2025-06-10
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PREAI
errHana Antonicka; Woranontee Weraarpachai; Katherine M. Szigety; Robert Kopajtich; James B. Gibson; Johan L.K. Van Hove; Marisa W. Friederich; Piervito Lopriore; Christiane Neuhofer; Roxanne A. Van Hove; Michel A. Cole; Richard Reisdorph; James T. Peterson; Katherine J. Dempsey; Rebecca D. Ganetzky; Michelangelo Mancuso; Holger Prokisch; Eric A. Shoubridge
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Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis
err2025-06-08
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PREAI
errOlivia D'Annibale; Whitney Phinney; Molly Crenshaw; Mary Kate LoPiccolo; Ibrahim Elsharkawi; Emily Shelkowitz; Daniel Pique; Rodrigo T. Starosta; Austin Larson; Johan L.K. Van Hove; Tim Wood; Aaina Kochhar
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
err2024-11-21
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errKaraa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango
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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis
err2024-11-01
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PREAI
errStarosta, Rodrigo T.; Larson, Austin A.; Meeks, Naomi J. L.; Gracie, Sara; Friederich, Marisa W.; Gaughan, Sommer M.; Baker II, Peter R.; Knupp, Kelly G.; Michel, Cole R.; Reisdorph, Richard; Hock, Daniella H.; Stroud, David A.; Wood, Tim; Van Hove, Johan L. K.
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ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis
err2024-09-01
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PREAI
errHove, Johan L. K. Van; Friederich, Marisa W.; Hock, Daniella H.; Stroud, David A.; Caruana, Nikeisha J.; Christians, Uwe; Schniedewind, Bjorn; Michel, Cole R.; Reisdorph, Richard; Gonzalez, Edwin D. J. Lopez; Brenner, Charles; Donovan, Tonia E.; Lee, Jessica C.; Chatfield, Kathryn C.; Larson, Austin A.; Baker, Peter R., II; McCandless, Shawn E.; Burk, Meghan F. Moore
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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
err2024-04-08
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errVan Hirtum, Liesbet D. F. M.; Van Damme, Tine; Van Hove, Johan L. K.; Steyaert, Jean G.
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Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases
err2024-01-01
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PREAI
errVan 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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Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial
err2023-07-18
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errKaraa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango
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Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children
err2023-06-01
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errSquires, James E.; Miethke, Alexander G.; Valencia, C. Alexander; Hawthorne, Kieran; Henn, Lisa; Van Hove, Johan L. K. H.; Squires, Robert; Bove, Kevin; Horslen, Simon; Kohli, Rohit; Molleston, Jean P.; Romero, Rene; Alonso, Estella M.; Bezerra, Jorge A.; Guthery, Stephen L.; Hsu, Evelyn; Karpen, Saul J.; Loomes, Kathleen M.; Ng, Vicky L.; Rosenthal, Philip; Mysore, Krupa; Wang, Kasper S.; Friederich, Marisa W.; Magee, John C.; Sokol, Ronald J.
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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels(vol 17, 423, 2022)
err2023-03-13
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errShelkowitz, 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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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
err2022-12-06
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errCoughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara
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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
err2022-12-05
err7
errOAAI
errShelkowitz, Emily; Saneto, Russell P. P.; Al-Hertani, Walla; Lubout, Charlotte M. A.; Stence, Nicholas V. V.; Brown, Mark S. S.; Long, Patrick; Walleigh, Diana; Nelson, Julie A. A.; Perez, Francisco E. E.; Shaw, Dennis W. W.; Michl, Emma J. J.; Van Hove, Johan L. K.
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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
err2022-10-03
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errArribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A.; Farris, Joseph; Ostergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas, V; Magistrati, Martina; Spector, Elaine B.; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G.; Feichtinger, Rene G.; Achleitner, Melanie T.; Merritt, J. Lawrence; Perez, Belen; Ugarte, Magdalena; Grunewald, Stephanie; Riela, Anthony R.; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, Rene; Lund, Allan M.; Mayr, Johannes A.; Rodriguez-Pombo, Pilar; Van Hove, Johan L. K.
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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment (vol 13, 2769, 2022)
err2022-06-20
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errBalderas, 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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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
err2022-06-01
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errEmmanuele, Valentina; Ganesh, Jaya; Vladutiu, Georgirene; Haas, Richard; Kerr, Douglas; Saneto, Russell P.; Cohen, Bruce H.; Van Hove, Johan L. K.; Scaglia, Fernando; Hoppel, Charles; Rosales, Xiomara Q.; Barca, Emanuele; Buchsbaumm, Richard; Thompson, John L.; DiMauro, Salvatore; Hirano, Michio
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