1.      Brambilla A, Mannarino S, Pretese R, Gasperini S, Galimberti C, Parini R (2014) Improvement of cardiomyopathy after high-fat diet in two siblings with glycogen storage disease type III. JIMD Rep 17:91–95

2.      Busch V, Gempel K, Hack A et al (2005) Treatment of glycogenosis type V with ketogenic diet. Ann Neurol 58:341

3.      Cameron, T., Allan, K., & Kay Cooper (2024). The use of ketogenic diets in children living with drug-resistant epilepsy, glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency: A scoping review. Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 37(4), 827–846. https://doi.org/10.1111/jhn.13324

4.      Dagli A, Sentner CP, Weinstein DA (2010) Glycogen Storage Disease Type III. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 19932014. 2010 Mar 09

5.      Ganetzky, R., McCormick, E. M., & Falk, M. J. (2021). Primary Pyruvate Dehydrogenase Complex Deficiency Overview. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.

6.      Höller, A., Welte, S., Schönlaub, A. K., Uhlisch, C., Scholl-Bürgi, S., Male-Dressler, A., Pfeifer, B., & Schreier, G. (2024). Telemedicine for Ketogenic Dietary Treatment in Refractory Epilepsy and Inherited Metabolic Disease

7.      Jurecka A, Opoka-Winiarska V, Rokicki D, Tylki-Szymańska A (2012) Neurologic presentation, diagnostics, and therapeutic insights in a severe case

8.      Kossoff, E.H.; Zupec-Kania, B.A.; Auvin, S.; Ballaban-Gil, K.R.; Christina Bergqvist, A.G.; Blackford, R.; Buchhalter, J.R.; Caraballo, R.H.; Cross, J.H.; Dahlin, M.G.; et al. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open 2018, 21, 175–192

9.      Li, R., Ma, M., Chen, W., & Qiu, Z. (2024). Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review. BMC pediatrics, 24(1), 603. https://doi.org/10.1186/s12887-024-05054-

10.  Nylen K, Velazquez JL, Sayed V, Gibson KM, Burnham WM, Snead OC 3rd (2009) The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice. Biochim Biophys Acta 1790:208–212

11.  Ogawa, E., Hishiki, T., Hayakawa, N., Suzuki, H., Kosaki, K., Suematsu, M., & Takenouchi, T. (2023). Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency. Molecular genetics and metabolism reports, 35, 100968. https://doi.org/10.1016/j.ymgmr.2023.100968

12.  Pearson TS, Pons R, Engelstad K, Kane SA, Goldberg ME, De Vivo DC. Paroxysmal eye-head movements in Glut1 deficiency syndrome. Neurology. 2017;88(17):1666-1673.

13.  Schiff M, Bénit P, Coulibaly A, Loublier S, El-Khoury R, Rustin P. Mitochondrial response to controlled nutrition in health and disease2011 2011-1-1. 65–75p

14.  Scholl-Bürgi, S., Höller, A., Pichler, K., Michel, M., Haberlandt, E., & Karall, D. (2015). Ketogenic diets in patients with inherited metabolic disorders. Journal of inherited metabolic disease, 38(4), 765–773. https://doi.org/10.1007/s10545-015-9872-2

15.  Schwantje, M., Verhagen, L. M., van Hasselt, P. M., & Fuchs, S. A. (2020). Glucose transporter type 1 deficiency syndrome and the ketogenic diet. Journal of inherited metabolic disease, 43(2), 216–222. https://doi.org/10.1002/jimd.12175

16.  Sofou, K., Dahlin, M., Hallböök, T., Lindefeldt, M., Viggedal, G., & Darin, N. (2017). Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes. Journal of inherited metabolic disease, 40(2), 237–245. https://doi.org/10.1007/s10545-016-0011-5

17.  Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, et al. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis. 2020;43(1):36–50. doi: 10.1002/jimd.12104

18.  Valayannopoulos V, Bajolle F, Arnoux JB et al (2011) Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D, L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res 70:638–641

19.  van der Louw, E.; van den Hurk, D.; Neal, E.; Leiendecker, B.; Fitzsimmon, G.; Dority, L.; Thompson, L.; Marchió, M.; Dudzin ́ ska, M.; Dressler, A.; et al. Ketogenic diet guidelines for infants with refractory epilepsy. Eur. J. Paediatr. Neurol. 2016, 20, 798–809.

20.  Wesół-Kucharska, D., Greczan, M., Kaczor, M., Ehmke Vel Emczyńska-Seliga, E., Hajdacka, M., Czekuć-Kryśkiewicz, E., Piekutowska-Abramczuk, D., Halat-Wolska, P., Ciara, E., Jaworski, M., Jezela-Stanek, A., & Rokicki, D. (2024). Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients, 16(6), 812. https://doi.org/10.3390/nu16060812

21.  Wesół-Kucharska, D., Greczan, M., Kaczor, M., Ehmke Vel Emczyńska-Seliga, E., Hajdacka, M., Czekuć-Kryśkiewicz, E., Piekutowska-Abramczuk, D., Halat-Wolska, P., Ciara, E., Jaworski, M., Jezela-Stanek, A., & Rokicki, D. (2024). Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients, 16(6), 812.

22.  Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era. Neuropediatrics. 2017;48(04):309–314. doi: 10.1055/s-0037-1603776

23.  Zweers H, Smit D, Leij S, Wanten G, Janssen MCH. Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243A>G mutation: the DINAMITE study, a randomized controlled trial. Nutrition. 2020;69:110544. doi: 10.1016/j.nut.2019.06.025

24.  Zweers, H., van Wegberg, A. M. J., Janssen, M. C. H., & Wortmann, S. B. (2021). Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety. Orphanet journal of rare diseases, 16(1), 295. https://doi.org/10.1186/s13023-021-01927-w