Johan Van Hove, MD, PhD
Professor, Pediatrics-Clinical Genetics and Metabolism

Professional Titles

• Professor

Research Interests

Publications

• Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T. Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. Genes (Basel). 2023 Aug 4;14(8). PubMed PMID: 37628636
• Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. 2023 Jul 18;101(3):e238-e252. PubMed PMID: 37268435
• Squires JE, Miethke AG, Valencia CA, Hawthorne K, Henn L, Van Hove JLK, Squires RH, Bove K, Horslen S, Kohli R, Molleston JP, Romero R, Alonso EM, Bezerra JA, Guthery SL, Hsu E, Karpen SJ, Loomes KM, Ng VL, Rosenthal P, Mysore K, Wang KS, Friederich MW, Magee JC, Sokol RJ. Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children. Hepatol Commun. 2023 Jun 1;7(6). PubMed PMID: 37184518
• Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease. JIMD Rep. 2023 May;64(3):223-232. PubMed PMID: 37151360
• Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2023 Mar 13;18(1):54. PubMed PMID: 36915141
• Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. Hum Mol Genet. 2023 Mar 6;32(6):917-933. PubMed PMID: 36190515
• Analysis of protein biomarkers to identify mitochondrial hepatopathies from other liver diseases. Van Hove J LK, Friederich MW, Strode D K, Van Hove R A, Miller K, Sharma R, Shah H, Estrella J., Gabel L, Horslen S, Kohli R, Lovell M, A, Molleston J, Romero R, Squires J, Squires R, Sundaram S, Magee J, Sokol R, on behalf of the Childhood Liver Disease Research Network (ChiLDReN). Hepatol Commun accepted 11/28/2023
• Case report: PPA2 deficiency phenotype. Novacic D, Strode K, Van Hove R A, Friederich M W, Van Hove J LK, Gahl W. American College of Medical Genetics annual meeting, March 2023, Salt Lake City, UT
• Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2022 Dec 5;17(1):423. PubMed PMID: 36471344
• Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency. Hum Mol Genet. 2022 Oct 3. [Epub ahead of print] PubMed PMID: 36190515
• Coughlin CR 2nd, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MC, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. 2022 Aug 25;99(23):e2627-36. [Epub ahead of print] PubMed PMID: 36008148
• Balderas E, Eberhardt DR, Lee S, Pleinis JM, Sommakia S, Balynas AM, Yin X, Parker MC, Maguire CT, Cho S, Szulik MW, Bakhtina A, Bia RD, Friederich MW, Locke TM, Van Hove JLK, Drakos SG, Sancak Y, Tristani-Firouzi M, Franklin S, Rodan AR, Chaudhuri D. Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment. Nat Commun. 2022 Jun 20;13(1):3532. PubMed PMID: 35725853
• Challenges of studying ARS2 defects in fibroblasts. CureARS symposium, virtual, February 10, 2022
• Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. PubMed PMID: 35621276
• Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, Cohen BH, Van Hove JLK, Scaglia F, Hoppel C, Rosales XQ, Barca E, Buchsbaum R, Thompson JL, DiMauro S, Hirano M. Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022 Jun;136(2):125-131. PubMed PMID: 35606253
• Balderas E, Eberhardt DR, Lee S, Pleinis JM, Sommakia S, Balynas AM, Yin X, Parker MC, Maguire CT, Cho S, Szulik MW, Bakhtina A, Bia RD, Friederich MW, Locke TM, Van Hove JLK, Drakos SG, Sancak Y, Tristani-Firouzi M, Franklin S, Rodan AR, Chaudhuri D. Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment. Nat Commun. 2022 May 19;13(1):2769. PubMed PMID: 35589699
• Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. J Inherit Metab Dis. 2022 Jul;45(4):734-747. PubMed PMID: 35357708
• Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 Mar;43(3):305-315. PubMed PMID: 35026043
• Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 Mar;45(2):157-168. PubMed PMID: 34625984
• Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M. Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency. J Inherit Metab Dis. 2022 Jul;45(4):848-861. PubMed PMID: 35460084
• Chapter 26: Disorders of glycine metabolism. Van Hove J LK, Coughlin CR II, Swanson MA. In: Blau N, Dionisi-Vici C, Ferreira C, Vianey-Saban C, van Karnebeek C. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. 2nd Ed. Spinger, Heidelberg, 2022 p.469-478. ISBN 978-3-030-67726-8
• 19. Chapter 23: Nonketotic Hyperglycinaemia and Lipoate deficiency disorders. Van Hove J LK, Van Coster R. In: In: Saudubray J-M, Baumgartner M R, Gárcia-Cazorla A, Walter J (Eds). Inborn Metabolic Diseases. Diagnosis and treatment. 7th Ed. Springer-Verlag, Berlin, 2022, pp. 459-469. ISBN 978-3-662-63123-2
• Anabolism: Practical strategies. Kripps K, Van Hove J LK. In: Bernstein L, Rohr F, Van Calster S (Eds), Nutrition management of Inherited metabolic disorders. 2nd Edition, Springer, appears May 19, 2022
• The impact of glycine lowering therapies in nonketotic hyperglycinemia. Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence N, Brown MS, Long P, Walleigh D, Nelson J, Perez F, Shaw DWW, Van Hove JLK. Poster presentation at the SIMD, Orlando, FL May 4-7, 2022.
• Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. Van Hove J LK, Swanson M A, Young S P, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich M W. Oral presentation at the Annual meeting of the Society for the Study of Inborn Errors of Metabolism SSIEM 2022, Freiburg, Germany, August 30 – September 3, 2022
• Analysis of protein biomarkers to identify mitochondrial hepatopathies from other liver diseases. Van Hove J LK, Friederich MW, Strode D K, Van Hove R A, Miller K, Gabel L, Horslen S, Kohli R, Lovell M, A, Molleston J, Romero R, Squires J, Squires R, Sundaram S, Magee J, Sokol R, on behalf of the Childhood Liver Disease Research Network (ChiLDReN). Poster presentation at the Annual meeting of the Society for the Study of Inborn Errors of Metabolism SSIEM 2022, Freiburg, Germany, August 30 – September 3, 2022.
• Accuracy of GDF15 and FGF21 to differentitate mitochondrial hepatopathies (MH) from other pediatric liver diseases. Sokol R, Friederich MW, Strode DK, Van Hove RA, Miller K, Gabel L, Horslen S, Kohli R, LovMolleston J, Romero R, Squires J, Squires R, Sundaram S, Magee J, Van Hove JLK on behalf of the Childhood Liver Disease Research Network (ChiLDReN, (1) American Association for the Study of Liver Diseases (AASLD) meeting, Washington DC 2-4 November 2022. And (2) the ChiLDReN meeting, Washington DC September 21-22 Oral presentation
• Protein biomarkers GDF15 and FGF21 to differentitate mitochondrial hepatopathies fomr other pediatric liver diseases. Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Gabel L, Horslen S, Kohli R, Lovell M, Miethke A, Molleston J, Romero R, Squires J, Squires R, Sundaram SS, Magee J, Sokol RJ, on behalf of the Childhood Liver Disease Research Network (ChiLDReN). Aussiemit, Sydney, Australia, November 16-18.
• Through the looking glass: observations on the role of GDF-15 in mitochondrial disorders. Estrella JFGL, Larson A, Van Hove R, Friedrich M, Van Hove J. Rare Diseases Clinical Resarch network (RDCRN) meeting, virtual, 11/9/2022
• Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2021 Oct 9. [Epub ahead of print] PubMed PMID: 34625984
• Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab. 2021 Aug;133(4):362-371. PubMed PMID: 34140213
• Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Mol Genet Metab. 2021 Jul;133(3):231-241. PubMed PMID: 33985889
• van Rijt WJ, Van Hove JLK, Vaz FM, Havinga R, Allersma DP, Zijp TR, Bedoyan JK, Heiner-Fokkema MR, Reijngoud DJ, Geraghty MT, Wanders RJA, Oosterveer MH, Derks TGJ. Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2021 Jul;44(4):926-938. PubMed PMID: 33543789
• De Bruyne P, Verloo P, Van Hove JLK, de Hemptinne B, Vande Velde S, Van Winckel M, Van Biervliet S, De Bruyne R. Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report. Pediatr Transplant. 2021 Sep;25(6):e13943. PubMed PMID: 33314525
• Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 Jan;44(1):178-192. PubMed PMID: 33200442
• Ferreira CR, Rahman S, Keller M, Zschocke J. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021 Jan;44(1):164-177. PubMed PMID: 33340416
• A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility. Van Hove JLK, Friederich MW, Knight KM, Lee JC, Van Hove RA, Larson AA, Hirano M, Saneto RP, Goldstein A, Ganetzky R, Tarnopolsky M, Haas R, Lichter-Konecki U, Cohen BH, Van Coster R, Smet J, Bird M, Cassiman D, Matthijs G, Mayr JA, Wortmann SB, Wolf L, Gahl W, Khan A, Wigby K, Butler M, Morava E, Geddes GC, Simon M, Smith WE. Oral presentation at the ICIEM2021. Top presentation. Sydney 11/22/2021 published in J Inherit Metab Dis Suppl 2021
• Pathogenic variants in GCSH encoding the H-protein cause a variant form of nonketotic Hyperglycinemia. Arribas-Carreira L, Swanson M, Østergaard E, Dallabona C, Donnini C, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Mayr JA, Haldar K, Stence N, Spector E, Kronquist K, Christensen M, Karstensen H, Julve N, Merritt JL II, Perez B, Ugarte M, Grünewald S, Riela AR, Santer R, Lund AM, Rodriguez-Pombo P, Van Hove J. Poster presentation at the ICIEM2021. Sydney 11/19-23/2021 published in J Inherit Metab Dis Suppl 2021
• The impact of glycine reduction therapies on brain glycine levels in nonketotic hyperglycinemia. Shelkowitz E, Long P, Stence N, Brown M, Walleigh D, Nelson J, Saneto RP, Perez F, Van Hove JLK. Poster presentation at the ICIEM2021. Sydney 11/19-23/2021 published in J Inherit Metab Dis Suppl 2021
• Van Hove JLK, Thomas JA, McCandless SE, Woontner M, Coughlin C. In Memoriam. J Inherit Metab Dis. 2020 Dec 22. [Epub ahead of print] PubMed PMID: 33354834
• De Bruyne P, Verloo P, Van Hove JLK, de Hemptinne B, Vande Velde S, Van Winckel M, Van Biervliet S, De Bruyne R. Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report. Pediatr Transplant. 2020 Dec 14;:e13943. [Epub ahead of print] PubMed PMID: 33314525
• Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK. A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype. Mol Genet Metab. 2020 Dec;131(4):398-404. PubMed PMID: 33279411
• Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2020 Nov 16. [Epub ahead of print] PubMed PMID: 33200442
• Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion. 2020 Nov;55:8-13. PubMed PMID: 32931937
• Rosales XQ, Thompson JLP, Haas R, Van Hove JLK, Karaa A, Krotoski D, Engelstad K, Buchsbaum R, DiMauro S, Hirano M. The North American mitochondrial disease registry. J Transl Genet Genom. 2020;4:81-90. PubMed PMID: 32601614
• Bennett J, Kerr M, Greenway SC, Friederich MW, Van Hove JLK, Hittel D, Khan A. Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder. Mol Genet Metab Rep. 2020 Sep;24:100616. PubMed PMID: 32577402
• Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet. 2020 Apr;6(2):e402. PubMed PMID: 32337332
• Wortmann SB*, Van Hove JLK*, Derks TGJ*, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020 Aug 27;136(9):1033-1043. PubMed PMID: 32294159
• Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK*, Scaglia F*, Enns GM*, Larson AA*. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 May;130(1):58-64. PubMed PMID: 32173240
• Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. PubMed PMID: 32160317
• Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP*, Van Hove JLK*. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab. 2020 Mar;129(3):236-242. PubMed PMID: 31917109
• van Rijt WJ, Jager EA, Allersma DP, Aktuglu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genet Med. 2020 May;22(5):908-916. PubMed PMID: 31904027
• Shelkowitz E, Ficicioglu C, Stence N, Van Hove J, Larson A. Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency. J Child Neurol. 2020 Feb;35(2):137-145. PubMed PMID: 31665995
• Ferreira CR, Rahman S, Keller M, Zschocke J. An International Classification of Inherited Metabolic Disorders (ICIMD). J Inherit Metab Dis. 2020 Dec 19. [Epub ahead of print] PubMed PMID: 33340416
• Nau S, McCourt EA, Maloney JA, Van Hove JL, Saenz M, Jung JL. COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. J AAPOS. 2019 Aug;23(4):246-248. PubMed PMID: 31128271
• Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2019 Jan;44:58-64. PubMed PMID: 29307858
• Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. PubMed PMID: 29478781
• Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2018 Jan 4. [Epub ahead of print] PubMed PMID: 29307858
• Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 Sep;20(9):1098. PubMed PMID: 29300369
• Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R. New insights into the phenotype of FARS2 deficiency. Mol Genet Metab. 2017 Dec;122(4):172-181. PubMed PMID: 29126765
• Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Hum Mutat. 2017 Jun;38(6):678-691. PubMed PMID: 28244183
• Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JLK, Freeze HH, Abdenur JE. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 May;34:84-90. PubMed PMID: 28216230
• Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Ploski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 7;99(1):217-27. PubMed PMID: 27374774
• van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol. 2016 Jun;59:6-12. PubMed PMID: 26995068
• Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JL, Lawlor MW, Dimmock DP. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med. 2016 Mar;92:141-51. PubMed PMID: 26773591
• Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS, on behalf of the GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Jan 29. [Epub ahead of print] PubMed PMID: 25649058
• Zhang YH, Van Hove JL, McCabe ER, Dipple KM. Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene. Mol Genet Metab Rep. 2015 Sep 1;4:42-45. PubMed PMID: 26309814
• Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct;78(4):606-18. PubMed PMID: 26179960
• Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18;10:79. PubMed PMID: 26081110
• Coughlin CR 2nd, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct;116(1-2):35-43. PubMed PMID: 26026794
• Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug;52(8):532-40. PubMed PMID: 25787132
• Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015 Apr;114(4):501-15. PubMed PMID: 25655951
• Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):494-500. PubMed PMID: 25649058
• Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar;21:1-10. PubMed PMID: 25575635
• Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A, on behalf of the GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2014 Dec 29. [Epub ahead of print] PubMed PMID: 25655951
• Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2014 Dec 11. [Epub ahead of print] PubMed PMID: 25503498
• van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014;15:1-11. PubMed PMID: 24748525
• Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan;14(1):26-33. PubMed PMID: 23891656
• De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects. Phytother Res. 2014 Feb;28(2):312-6. PubMed PMID: 23620374
• Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab. 2013 Jan;108(1):13-7. PubMed PMID: 23177662 (co-first author)
• Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. PubMed PMID: 24011988
• De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Phytother Res. 2013 Apr 26. [Epub ahead of print] PubMed PMID: 23620374
• van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov;107(3):335-44. PubMed PMID: 23022070
• Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012 Mar;35(2):253-61. PubMed PMID: 22002442
• Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr;42(4):455-62. PubMed PMID: 21989980
• 18. Chapter 26: Disorders of glycine metabolism. Van Hove J LK, Coughlin CR II, Swanson MA. In: Blau N, Dionisi-Vici C, Ferreira C, Vianey-Saban C, van Karnebeek C. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. 2nd Ed. Spinger, Heidelberg, 2021 ISBN 978-3-030-67726-8, appears spring 2022
• 19. Chapter 23: Nonketotic hyperglycinemia (Glycine encephalopathy) and Lipoate deficiency disorders. Van Hove J LK, Van Coster R. In: In: Saudubray JM, Baumgartner M R, Walter J H, Cazorla AG (Eds). Inborn Metabolic Diseases, diagnosis and treatment. 7th Ed. Springer-Verlag, Berlin, In Press scheduled to appear 2022 ISBN 978-3-662-63123-2
• 20. Anabolism: Practical strategies. Kripps K, Van Hove J LK. In: Bernstein L, Rohr F, Van Calster S (Eds), Nutrition management of Inherited metabolic disorders. 2nd Edition , Springer, appears May 19, 2022
• 19. Chapter 23: Nonketotic hyperglycinemia (Glycine encephalopathy) and Lipoate deficiency disorders. Van Hove J LK, Van Coster R. In: In: Saudubray JM, Baumgartner M R, Walter J H, Cazorla AG (Eds). Inherited Metabolic Diseases, 7th Ed. Springer-Verlag, Berlin, In Press
• 18. Chapter 26: Disorders of glycine metabolism. Van Hove J LK, Coughlin CR II, Swanson MA. In: Blau N, Dionisi-Vici C, Ferreira C, Vianey-Saban C, van Karnebeek C. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. 2nd Ed. Spinger, Heidelberg,
• The impact of glycine lowering therapies in nonketotic hyperglycinemia. Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence N, Brown MS, Long P, Walleigh D, Nelson J, Perez F, Shaw DWW, Van Hove JLK. Poster presentation at the SIMD, Orlando, FL May 4-7, 2022

Professional Memberships

• Society for Inherited Metabolic Disorders (SIMD), member
• Society for the Study of Inborn Errors of Metabolism (SSIEM), member
• American College of Medical Genetics, member
• Mitochondrial Medicine Society, member