Johan Van Hove, MD, PhD

Professional Titles

• Professor

Research Interests

Please visit my lab research web page at For nonketotic hyperglycinemia (NKH): https://medschool.cuanschutz.edu/pediatrics/sections/genetics-and-metabolism/research/nonketotic-hyperglycinemia-(nkh)-research-lab For Mitochondrial energetics disorders: https://medschool.cuanschutz.edu/pediatrics/sections/genetics-and-metabolism/research/mitochondrial-bioenergetics-disorders-lab I am interested in neurometabolic diseases that causes seizures, in particular in non-ketotic hyperglycinemia. I study the genetic basis, the clinical spectrum, the prediction of outcome including the relation between genotype and phenotype, the pathogenesis in animal models and human patients and the development of new treatments for this condition. I am also interested in pyridoxine dependent epilepsy and related metabolic causes of seizures. I am interested in the development of appropriate clinical tests for mitochondrial energy disorders, in the identification and proof of new genetic causes as well as the development of new treatments. Disorders of lipoate metabolism are a particular focus.

Publications

• 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)
• 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
• Family matters: exome sequencing can identify causal variants in isolated probands through family-based studies. H-C Yu, C R Coughlin, E A Geiger, M Friederich, I Medne, J E Ming, E H Zackai, J L Van Hove, X Gai, G H Scharer, T H Shaikh. American Society of Human Genetics 2012
• Lysine restricted diet for pyrideoxine dependent epilepsy: first evidence & future trials. CDM Van Karnebeek, H Hartmann, S Jaggumantri, L Bok, B Cheng, M Connolly, CR Coughlin II, A M Das, S M Gospe, C Jakobs, H van Der Lee, S Mercimek-Mahmutoglu, U Meyer, F Struys, G Sinclair, J Van Hove, J P Collet, B R Plecko, S Stockler. Society for the Study of Inborn Errors of Metabolism, Birmingham Seot 4-7, 2012
• The diagnostic yield and benefit analysis of a neurometabolic clinic. Janet A Thomas, Shannon L. Scrivner, Timothy Benke, Abigail Collins, Renata Gallagher, Janell Kierstein, Johan L. Van Hove. American College of Medical Genetics, March 2013
• Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials Sylvia Stockler, Hans hartmann, Sravan Jaggrumantri, Levinus Bok, Sidney Gospe, Johan Van Hove, Barbara Plecko, Clara Van Karnebeek. ACMG March 2013
• G Hoffmann, M Willemsen, M Gibson, J Van Hove Neurotransmitter disorders. In: K Sarafoglu, G F Hoffmann, K S Roth (Eds). Pediatric Endocrinology and Inborn Errors of Metabolism 2nd Edition, McGraw-Hill, Submitted 2012
• J Van Hove, J Thomas. Chpater 5: glycine, serine, GABA, and proline metabolism. In: Blau et al. Eds Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Heidelberg. Submitted 2012
• Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, Maclean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Variant nonketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2013 Dec 11. [Epub ahead of print] PubMed PMID: 24334290
• Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion. 2013 Nov;13(6):656-61. PubMed PMID: 24063851
• A sibling study in attenuated non-ketotic hyperglycinemia provides direct evidence of therapeutic treatment effect of benzoate and dextromethorphan on neurocognitive outcome. Swanson MA, Szerlong HJ, Collard R, Friederich MW, Bijarna S, Tan ES, Christodoulou J, Fergeson MA, Dyack S, Van Hove JLK. Presented at the International Congres on Inborn Errors of Metabolism ICIEM in Barcelona, Spain, September 2014, published in JIMD
• 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
• Molleston JP, Sokol RJ, Karnsakul W, Miethke A, Horslen S, Magee JC, Romero R, Squires RH, Van Hove JL, Childhood Liver Disease Research Education Network (ChiLDREN). Evaluation of the child with suspected mitochondrial liver disease. J Pediatr Gastroenterol Nutr. 2013 Sep;57(3):269-76. PubMed PMID: 23783016
• 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
• Defective mitochondrial RNA processing causes energy failure in HSD10 diseases, also known as 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. Friederich MW, Chatfield KC, Coughlin CR II, Thomas JA, Gallagher RC, Lovell MA, Wanders RJA, Watchow EP, Van Hove JLK, presented at the International Congress of Inborn Errors of Metabolism (ICIEM) in Barcelona, Spain, September 2013, printed in JIMD
• 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
• Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, Clinical Director's Work Group. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion. 2013 Nov;13(6):681-7. PubMed PMID: 24063850
• 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. 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
• 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
• 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
• 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 Jan 6;21C:1-10. [Epub ahead of print] PubMed PMID: 25575635
• Van Hove J, Coughlin C, Scharer G, Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. Glycine Encephalopathy. . 1993. PubMed PMID: 20301531
• 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
• Glycine, Serine, GABA, Proline metabolism. J Van Hove, J Thomas. In: Blau et al. Eds Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Heidelberg.
• 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
• Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. PubMed PMID: 24334290
• 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
• Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Kruszka P S, Kirmse B, Zand D J, Cusmano-Ozog K, E Spector, JL Van Hove, Chapman K A, Mol Genet Metab Reports, accepted for publication
• Nonketotic hyperglycinemia. J Van Hove, C R Coughlin II. In: N Blau, G Hoffmann (Eds) Congenital Neurotransmitter Disorders. Nova Publishers, New York. 2014, pp. 101-122
• Glycogen storage diseases. J. Van Hove. In: Bernstein L, Rohr F, Helm J. (Eds) Nutrition treatment of inherited metabolic diseases. Lessons from Metabolic University. Springer Publishers, submitted
• Fatty acid oxidation disorders. J. Van Hove. In: Bernstein L, Rohr F, Helm J. (Eds) Nutrition treatment of inherited metabolic diseases. Lessons from Metabolic University. Springer Publishers, submitted
• Anabolism. J. Van Hove. In: Bernstein L, Rohr F, Helm J. (Eds) Nutrition treatment of inherited metabolic diseases. Lessons from Metabolic University. Springer Publishers, submitted
• Inborn Errors of Metabolism. J A Thomas, J LK Van Hove. In: W W Hay Jr, M J Levin, R R Deterding, M J Abzug (Eds) Current diagnosis and treatment Pediatrics, 23nd Edition, McGrawHill, New York, in press.
• Outcome in nonketotic hyperglycinemia. JL Van Hove, Swanson M A, Coughlin C R II, Bjoraker K, Spector E, Scharer G, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann J. Oral presentation at the Society of Inborn Metabolic Diseases annual meeting, Monterey, CA, March 2014, Abstract published in Molecular Genetics and Metabolism.
• Combined triple therapy trial of pyridoxine, lysine restricted diet and arginine supplementation in four patients with pyridoxine-dependent epilepsy. Shuen A Y, Coughlin C R 2nd, Lefrancois M, Srour M, Thams J A, Gallagher R C, Watrs P J, Hyland K, Van Hove J L, Al-Hertani W. Oral presentation at the Society of Inborn Metabolic Diseases annual meeting, Monterey, CA, March 2014, Abstract published in Molecular Genetics and Metabolism.
• Propofol infusion impairs respiratory chain activities in human muscle tissue. Polaner D M, Friederich M, Zuk J, Schneiwind B, Acquilante C, Pan Z, Galinkin J, J Van Hove. Oral presentation at the annual meeting of the Association of University Anesthesiologists, Stanford, California, April 24-26, 2014
• Outcome in nonketotic hyperglycinemia. JL Van Hove, Swanson M A, Coughlin C R II, Bjoraker K, Spector E, Scharer G, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann J. Oral presentation at the Child Neurology Society, Columbus,Ohio, October 22-25, 2014, Abstract to be published in Neurology
• Abnormalities of mitochondrial number and function in pediatric patients with idiopathic dilated cardiomyopathy. Chatfield K C, Friederich M W, Miyamoto S D, Sucharov C C, Van Hove J LK, Stauffer B L, Poster presentation at the Annual meeting of the American Society of Human Genetics, Chicago, November 17, 2014
• Update on novel treatments for pyridoxine-dependent epilepsy due to ATQ deficiency. Van Karnebeek C, Al-Hertani W, Jaggumantri S, Coughlin C, Gallagher R, Van Hove J, Stockler S, Hartmann H. Oral presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, Austria, September 2014
• Predictable Progression of Restricted Diffusion in Nonketotic Hyperglycinemia. Stence N, Fenton L, Coughlin C, Van Hove J. Oral presentation at the 53rd annual meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015
• Improvement of pathological findings on magnetic resonance imaging of the brain with use of ketogenic diet for pyruvate dehydrogenase complex deficiency. Larson A, Stence N V, Coughlin C R II, Thoams J A, Gallagher R C, Collins A, Van Hove J LK. Poster presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, Salt Lake City, March 28-31, 2015
• 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
• 11. Glycogen storage diseases. J. Van Hove. In: Bernstein L, Rohr F, Helm J. (Eds) Nutrition treatment of inherited metabolic diseases. Lessons from Metabolic University. Springer Publishers, 2015, p.295-306
• 12. Fatty acid oxidation disorders. J. Van Hove. In: Bernstein L, Rohr F, Helm J. (Eds) Nutrition treatment of inherited metabolic diseases. Lessons from Metabolic University. Springer Publishers, 2015, p.241-254.
• 13. Anabolism. J. Van Hove. In: Bernstein L, Rohr F, Helm J. (Eds) Nutrition treatment of inherited metabolic diseases. Lessons from Metabolic University. Springer Publishers, 2015 p.59-62
• 14. Inborn Errors of Metabolism. J A Thomas, J LK Van Hove. In: W W Hay Jr, M J Levin, R R Deterding, M J Abzug (Eds) Current diagnosis and treatment Pediatrics, 23nd Edition, McGrawHill, New York, in press
• Corrigendum: Biochemical and Molecular Predictors for Prognosis in Nonketotic Hyperglycinemia. Swanson M. A., Coughlin C.R.II, Van Hove J. L. K. Ann Neurol in press
• 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
• 15. Chapter 23: Nonketotic hyperglycinemia (Glycine encephalopathy). J. L.K. Van Hove, J. Hennermann, C. R. Coughlin II. In: Saudubray JM, Baumgartner M R, Walter J H (Eds). Inherited Metabolic Diseases, 6th Ed. Springer-Verlag, in press
• 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
• 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
• 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
• Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia Bjoraker K J, Swanson M A, Coughlin C R II, Christodoulou J, Tan E S, Fergeson M, Dyack S, Ahmad A, Friederich M W, Spector E, Creadon-Swindell G, Hodge M A, Gaughan S, Burns C, Van Hove J LK. J Pediatr, in press
• Coughlin CR 2nd, 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 JL. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2016 Jun 30. [Epub ahead of print] PubMed PMID: 27362913
• Predictable Progression of Restricted Diffusion in Nonketotic Hyperglycinemia. Stence N, Fenton L, Coughlin C, Van Hove J. Oral presentation at the 53rd annual meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015
• 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
• Swanson MA, Coughlin CR Jr, Van Hove JL. Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618. Ann Neurol. 2016 Mar;79(3):505. PubMed PMID: 26969502
• 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
• Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. J Pediatr. 2016 Mar;170:234-9. PubMed PMID: 26749113
• Improvement of pathological findings on magnetic resonance imaging of the brain with use of ketogenic diet for pyruvate dehydrogenase complex deficiency. Larson A, Stence N V, Coughlin C R II, Thoams J A, Gallagher R C, Collins A, Van Hove J LK. Poster presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, Salt Lake City, March 28-31, 2015
• Mutations in NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme. Friederich M W, Coughlin C R II, Jiang H, O’rourke C, Lovell M A, gowan K, Van Hove J LK. Poster presentation at the annual scientific meeting of the United Mitochondrial Disease Foundation, Dulles, MD, June 17-20, 2015
• Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh T, Coughlin C II, Yu H-C, Swanson M, Friederich M, Scharer G, Helbling D, Wendt-Andrea J, Van Hove J. Cobalamin X (HCFC1 deficiency) mimicking nonketotic hyperglycinemia (NKH) with increased CSF glycine, methylmalonic acid and hydroxyisovalerate.
• Marisa W. Friederich*, Alican J Erdogan*, Curtis R. Coughlin II, Mihret Elos, Hua Jiang, Courtney O’Rourke, Mark A. Lovell, Eric Wartchow, Katherine Gowan, Kathryn C. Chatfield, Wallace S. Chick, Elaine Spector, Johan L.K. Van Hove*, Jan Riemer*. *Equal contribution. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet in print, accepted 12/16/2016
• 15. Chapter 23: Nonketotic hyperglycinemia (Glycine encephalopathy) and lipoate deficiency disorders. J. L.K. Van Hove, J. B. Hennermann, C. R. Coughlin II. In: Saudubray JM, Baumgartner M R, Walter J H (Eds). Inherited Metabolic Diseases, 6th Ed. Springer-Verlag, Berlin, 2016, pp. 349-356
• Nonketotic Hyperglycinemia. J. Van Hove, In: M W Kline, S Blaney, A P Giardino, J S Orange, D J Penny, G schutze, L S Shekerdemian. Rudolph’s Pediatrics 23rd Ed. McGraw Hill
• NORD (National Organization for Rare Disorders): Nonketotic hyperglycinemia Allison Kress, Leah Rhodes, Curtis Coughlin, Johan L. Van Hove, published at http://rardiseases.org/rare-diseases/nonketotic-hyperglycinemia.2016
• The genotypic spectrum of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. K Kronquist, C R Coughlin II, M A Swanson, C Acquaviva, T Hutchin, P Rodríguez-Pombo, S Kure, E Spector, G Creadon-Swindell, AM Brás-Goldberg, V Mahieu, G Matthijs, I Bravo-Alonso, C Pérez-Cerdá, M Ugarte, G H Scharer, J LK Van Hove. Oral presentation at the annual meeting of the American College of Medical Genetics, March 9-11, 2016. Tampa, FL.
• D-glyceric aciduria does not cause hyperglycinemia: a historic case correction. Sass J O, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove J. Poster presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 2015
• Cobalamin X (HCFC1 deficiency) mimicking nonketotic hyperglycinemia (NKH) with increased CSF glycine and methylmalonic acid. Scalais E, Weitzel C, De Meirleir L, Maertens G, Shaikh T H, Coughlin C II, Yu H-C, Swanson M, Friederich M, Scharer G, Helbling D, Wendt-Andrea J, Van Hove J. Poster presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 2015
• Blue and clear native electrophoresis in skin fibroblasts as a tool for detection of mitochondrial disease. Sosova I, Sinasac D, Snyder F, Hume S, Friederich M, Van Hove J, White C, Resch L, Khan A. Poster presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 2015
• Clinical and biochemical characterization of four patients with mutations in ECHS1. Ferdinandusse S, Friederich M W, Burline A, Ruiter J P N, Coughlin C R II, Dishop M K, Gallagher R C, Bedoyan J K , Vaz F M, Waterham H R, elpeleg O, Gowan K, Van Hove J L K, Wanders R J A. Poster presentation at the 47th EMG conference, Venice, June 11-13, 2015
• The genotypic spectrum of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. C Coughlin II, M Swanson, K Kronquist, C Acquaviva, T Hutchin, P Rodriguez-Pombo, S Kure, M-L Vaisanen, E Spector, G Creadon-Swindell, A Bras-Goldberg, E Rahikkala, J Moilanen, V Mahieu, G Matthijs, I Bravo-Alonso, C Perez-Cerda, M Ugarte, C Vianey-Saban, G Scharer, J Van Hove. Oral presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, Ponte Vedra Beach, FL, March 2016. Abstract published in Molecular Genetics and Metabolism 2016; 117:236.
• 9032T>C is a new pathogenic variant in mtDNA resulting in impaired assembly of complex V. Larson A. Friederich M Coughlin C R II, Van Hove J LK. Poster presentation at the Annual meeting of the United Mitochondrial Disease Foundation. Seattle, June 2016.
• Evidence of multiple carboxylase deficiencies in seven unrelated patients with mutations in MT-ATP6. Weisfeld-Adams J D, Heese B, Hauser N, Balasubramaniam S, Christodoulou J, Glamuzina E, Mattman A, van Karnebeek C, Kluijtmans L A., Conner A, Diaz G A, Rutledge S L, Van Hove J K L, Larson A. Poster presentation at the Annual meeting of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, September 2016. Abstract published in the Journal of Inherited Metabolic Diseases; Australian mitochondrial conference November 2016, Clinical research in rare diseases conference November 2016.
• Triple therapy (Arginine fortification + Lysine Restricted Diet + Pyridoxine) for pyridoxine dependent epilepsy. Jaggumantri S, Coughlin C R, Al-Hertani W, Shuen A, Jack R M, Burns C, Mirsky D, Gallagher R, van Karnebeek C, Van Hove J. Poster presentation at the Annual meeting of the American Society of Human Genetics, Vancouver, November, 2016. Abstract published in American Journal of Human Genetics, supplement, 2016.
• Defining the clinical spectrum of pyridoxine dependent epilepsy. Van Karnebeek C D M, Tiebout S A, Niermeijer J, Poll-The B T, Richter J W, Christen H J, Coughlin C R II, Van Hove J L K, Gallagher R C, Hartmann H, Stockler-Ipsiroglu S. Pediatr Neurol accepted
• Coughlin CR 2nd, 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. CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 Jan 4. [Epub ahead of print] PubMed PMID: 29300369
• Coughlin CR 2nd, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene. Pediatr Neurol. 2017 Sep 28. [Epub ahead of print] PubMed PMID: 29239742
• Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 Oct 3;9(1):4065. PubMed PMID: 30283131
• 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
• Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis. 2018 Jul 24. [Epub ahead of print] PubMed PMID: 30043187
• Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Mol Genet Metab. 2017 Jun;121(2):80-82. PubMed PMID: 28462797
• Van Hove JLK, Thomas JA, Baker PR 2nd, Larson AA. In memoriam. J Inherit Metab Dis. 2018 May 7. [Epub ahead of print] PubMed PMID: 29736632
• Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatr Nephrol. 2018 Jul;33(7):1257-1261. PubMed PMID: 29637272
• Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet. 2018 Apr 5;102(4):557-573. PubMed PMID: 29576218
• Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR 2nd, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Pediatr Neurol. 2017 Jun;71:65-69. PubMed PMID: 28363510
• 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
• Coughlin CR 2nd, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene. Pediatr Neurol. 2018 Feb;79:e1. PubMed PMID: 29239742
• 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
• Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2017 Feb 15;26(4):702-716. PubMed PMID: 28040730
• Nonketotic Hyperglycinemia. J. Van Hove, In: M W Kline, S Blaney, A P Giardino, J S Orange, D J Penny, G schutze, L S Shekerdemian. Rudolph’s Pediatrics 23rd Ed. 2018 McGraw Hill
• Coughlin CR 2nd, 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 JL. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017 Jan;19(1):104-111. PubMed PMID: 27362913
• Glycine encephalopathy and epilepsy. Hennermann J B, Van Hove J L K, Coughlin C R 2nd. In: Pearl L (ed). Inherited Metabolic Epilepsies. Springer, New York, 2018, pp. 353-363.
• Characterization of a new nonketotic hyperglycinemia mouse model with an unstable missense mutation in GLDC. Swanson A., Rodriguez L, Jiang H, Knight K, Friederich M., Greene N., MacLean K., Van Hove J. Poster presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, San Diego, CA, March 11-14, 2018. Abstract published in Molecular Genetics and Metabolism 2018.
• 9. Neurotransmitter disorders. G Hoffmann, M Willemsen, M Gibson, J Van Hove In: K Sarafoglu, G F Hoffmann, K S Roth (Eds). Pediatric Endocrinology and Inborn Errors of Metabolism 2nd Edition, McGraw-Hill, 2017, pp. 1057-1094.
• Mutations in the genes QRSL1, GATB, and GATC encoding the subunits of glutamyl-tRNAGln amidotransferase cause a mitochondrial disorder with lethal infantile cardiomyopathy. Friederich M W, Timal S, Powell C, Dallabona C, Kurolap A, Palacios-Zambrano D, BratKovic D, Derks T, Fernández-Moreno M A, Baris H N, Donnini C, Minczuk M, Rodenburg R J, Van Hove J LK. Oral presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, San Diego, CA, March 11-14, 2018. Abstract published in Molecular Genetics and Metabolism 2018. Oral presentation at the Annual meeting of the Society for the Study of Inborn Errors of Metabolism, Athens, Greece, September 2018. Abstract published in the Journal of Inherited Metabolic Diseases. Oral presentation at the Aussiemit2018 meeting, November 2018, Melbourne, Australia.
• New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders. Knight K, Friederich M W, Van Coster R, Smet J, Vantroys E, Hirano M, Goldstein A, Van Hove J LK. Oral presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, San Diego, CA, March 11-14, 2018. Abstract published in Molecular Genetics and Metabolism 2018; and Poster presentation at the United Mitochondrial Diseases Foundation meeting, Nashville, TN, June 27-30,2018.
• Brain imaging in classic nonketotic hyperglycinemia. Stence N V, Fenton L Z, Palmer C, Tong S, Coughlin C R, II, Hennermann J, Wortmann S B, Van Hove J LK. Poster presentation at the Annual meeting of the Society for Inherited Metabolic Diseases, San Diego, CA, March 11-14, 2018. Abstract published in Molecular Genetics and Metabolism 2018. Poster presentation at the Annual meeting of the Society for the Study of Inborn Errors of Metabolism, Athens, Greece, September 2018. Abstract published in the Journal of Inherited Metabolic Diseases.
• 14. Inborn Errors of Metabolism. J A Thomas, J LK Van Hove. In: W W Hay Jr, M J Levin, R R Deterding, M J Abzug (Eds) Current diagnosis and treatment Pediatrics, 23nd Edition, McGrawHill, New York, in press.
• Invited presentation: Great Ormond Street Hospital, London: Nonketotic hyperglycinemia. April 21, 2017
• Mutations in SQOR encoding sulfide:quinone oxidoreductase causes fatal Leigh disease. Friederich MW, Elias AF, Larson AA, Landry A, Ellwood-Diegel L, Mirsky D, Dimmock D, Boutilier S, Jiang H, MacLean K, Friederich M, Bannerjee R, Van Hove JLK. Poster presentation at Aussiemit2018 in Melbourne, November 27, 2018.
• Invited presentation: Duke University Medical Center, Durham, NC: Nonketotic hyperglycinemia. April 14, 2017
• Biomarkers of Oxidative Stress, Inflammation, and Vascular Dysfunction in Inherited Cystathionine ß-synthase Deficient Homocystinuria and the Impact of Taurine Treatment. Van Hove J, Freehauf C, MacLean K, Ficicioglu C, Pena L D M, Jiang H, Moreau K, Henthorn T, Christians U, Cowan T, Young S, Hite M, Friederich M, Stabler S, Spector E, Kronquist K, Thomas J, Emmett P. American College of Medical Genetics, Poster presentation, Phoenix, March 2017; Poster presentation at the International Congress of Inborn Errors of Metabolism (ICIEM) 2017 Rio de Janeiro September 2017
• 3-hydroxybutyrate (3-HB) in multiple acyl-CoA dehydrogenase deficiency: a systematic literature review and international retrospective cohort study. Van Rijt WJ, Jager EA, Ellaway CJ, School-Burgi S, Gautschi M, Debray F-G, Tchan MC, Schiff M, Gill-Ortega D, Larson A, Van Hove JLK, Derks TGJ. Oral presentation at INFORM 2017 Rio de Janeiro September 2017
• Alterations in the mitochondrial supercomplex in pediatric dilated cardiomyopathy. Chatfield K.C., Sparagna G.C., Chau S, Bennet M J, Chicco A J, Friederich M W, Van Hove J L K, Miyamoto SD, Stauffer B L. Poster presentation at the Basic Cardiovascular Sciences 2017 meeting, Portland, OR, July 10-13, 2017
• Glycine encephalopathy and epilepsy. Hennermann J B, Van Hove J L K, Coughlin C R 2nd. In: Pearl L (ed). Inherited Metabolic Epilepsies. Springer, New York, 2018, pp. 353-363.
• Shelkowitz E, Ficicioglu C, Stence N, Van Hove J, Larson A. Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency. J Child Neurol. 2019 Oct 31;:883073819881940. [Epub ahead of print] PubMed PMID: 31665995
• Newell C, Khan A, Sinasac D, Shoffner J, Friederich MW, Van Hove JLK, Hume S, Shearer J, Sosova I. Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease. Neurol Genet. 2019 Jun;5(3):e336. PubMed PMID: 31192304
• 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
• Nonketotic Hyperglycinemia. Van Hove J, Coughlin C II, Swanson M, Hennermann JB. 2002 Nov 14 [Updated 2019 May 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1357/ PubMed PMID: 20301531
• Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis. 2019 May;42(3):424-437. PubMed PMID: 30873612
• Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, Hennermann JB, Wortmann SB, Van Hove JLK. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. J Inherit Metab Dis. 2019 May;42(3):438-450. PubMed PMID: 30737808
• Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK*, Coughlin CR 2nd*. * equal contribution. Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. J Inherit Metab Dis. 2019 May;42(3):565-574. PubMed PMID: 30663059
• Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. J Inherit Metab Dis. 2019 Mar;42(2):353-361. PubMed PMID: 30043187
• 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
• Efficacy and safety of sodium-D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Van Rijt W J, Jager E A, Allersma D P, Zevbek A C A, Bhattacharya K, Debray F-G, Ellaway C J, Gautschi M, Geraghty M T, Gil-Ortega D, Larson A A, Moore F, Morava E, Morris A A, Oishi K, Schiff M, Scholl-Bürgi S, Tchan M C, Vockley J, Witters P, Wortmann S B, van Spronsen F, Van Hove J L, Derks T G J. Genet Med in press
• Mitochondrial diseases in North America: An analysis of the NAMDC registry. Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen B H, Karaa A, Vladutiu G D, Haas R, Van Hove J LK, Scaglia F, Parikh S, Bedoyan J K, DeBrosse S D, Gavrilova R H, Saneto R P, Enns G M, Stacpoole P W, Ganesh J B, Larson A, Zolkipli-Cunningham Z, Falk M J, Goldstein A C, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales X Q, Kriger J, Grier J, Buchsbaum J LP, Thompson J LP, Hirano M. Neurol Genet in press
• Mutations in NUBPL result in failure to assembly the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Marisa W. Freiderich, Francisco A. Perez, Kaz Knight, Roxanne A Van Hove, Samuel P Yang, Russell P. Saneto*, Johan L.K. Van Hove* * equal contribution Mol Genet Metab, in press
• Mutations in SQOR encoding sulfide:quinone oxidoreductase causes fatal Leigh disease. Friederich MW, Elias AF, Larson AA, Landry A, Ellwood-Diegel L, Mirsky D, Dimmock D, Boutilier S, Jiang H, MacLean K, Friederich M, Bannerjee R, Van Hove JLK. Poster presentation at Aussiemit2018 in Melbourne, November 27, 2018, poster presentation at the annual meeting of the Society for Inherited Metabolic Disorders, Seattle, March 2019, Abstract published in Molecular Genetics and Metabolism 2019, Poster presentation at the annual meeting of the United Mitochondrial Diseases Foundation Washington DC, June 2019, Oral presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, September 2019.
• Distinguishing CNS cystic metabolic disorders from pediatric cavitary lesions. Gilani A, Van Hove J, Thomas JA, Kleinschmidt-DeMasters BK. Society for Pediatric Pathology annual meeting, National Harbor, MD March 13-15, 2019, poster presentation.
• 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, 2019 submitted
• 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
• 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,
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• Challenges of studying ARS2 defects in fibroblasts. CureARS symposium, virtual, February 10, 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. 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
• 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
• 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

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

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation

• Children's Hospital Colorado
• University of Colorado Hospital

Specialty Information

Specialties

• Clinical Genetics and Genomics (MD), Board Certification (1993, 2003)
• Clinical Biochemical Genetics, Board Certification (1993, 2003)