M. C. Orngreen, T. D. Jeppesen, and S. T. Andersen, Fat metabolism during exercise in patients with McArdle disease, Neurology, vol.72, pp.718-724, 2009.

S. T. Andersen, T. D. Jeppesen, and T. Taivassalo, Effect of changes in fat availability on exercise capacity in McArdle disease, Arch Neurol, vol.66, pp.762-766, 2009.

N. F. Delaney, R. Sharma, and L. Tadvalkar, Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy, Proc Natl Acad Sci, vol.114, pp.8402-8407, 2017.

K. Sahlin, L. Jorfeldt, and K. Henriksson, Tricarboxylic acid cycle intermediates during incremental exercise in healthy subjects and in patients with McArdle's disease

, Clin Sci, vol.88, pp.687-693, 1995.

C. R. Roe, L. Sweetman, and D. S. Roe, Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride, J Clin Invest, vol.110, pp.259-269, 2002.

C. R. Roe and F. Mochel, Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential, J Inherit Metab Dis, vol.29, pp.332-340, 2006.

C. R. Roe, B. Z. Yang, and H. Brunengraber, Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy, Neurology, vol.71, pp.260-264, 2008.

C. R. Roe and H. Brunengraber, Anaplerotic treatment of longchain fat oxidation disorders with triheptanoin: review of 15 years experience, Mol Genet Metab, vol.116, pp.260-268, 2015.

S. Mahapatra, A. Ananth, and N. Baugh, Triheptanoin: a rescue therapy for cardiogenic shock in carnitineacylcarnitine translocase deficiency, JIMD Rep, vol.39, pp.19-23, 2017.

J. Vockley, J. Charrow, and J. Ganesh, Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

, Mol Genet Metab, vol.119, pp.223-231, 2016.

F. Mochel, P. Delonlay, and G. Touati, Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy, Mol Genet Metab, vol.84, pp.305-312, 2005.

F. Mochel, Triheptanoin for the treatment of brain energy deficit: a 14-year experience, J Neurosci Res, vol.95, pp.2236-2243, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01840222

L. Gu, G. Zhang, and R. S. Kombu, Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. II. Effects on lipolysis, glucose production, and liver acyl-CoA profile, Am J Physiol -Endocrinol Metab, vol.298, pp.362-371, 2010.

S. Deng, G. Zhang, and T. Kasumov, Interrelations between C4 ketogenesis, C5 ketogenesis, and anaplerosis in the perfused rat liver, J Biol Chem, vol.284, pp.27799-27807, 2009.

I. Marin-valencia, L. B. Good, and Q. Ma, Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain, J Cereb Blood Flow Metab, vol.33, pp.175-182, 2013.

G. Borg, Psychophysical bases of perceived exertion, Med Sci Sports Exerc, vol.14, pp.377-381, 1982.

R. Chalmers and A. M. Lawson, Organic acids in man: analytical chemistry, biochemistry and diagnosis of the organic Acidurias

. Springer, , 1982.

P. Vreken, A. E. Van-lint, and A. H. Bootsma, Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects, J Inherit Metab Dis, vol.22, pp.302-306, 1999.

R. G. Haller, P. Wyrick, T. Taivassalo, and J. Vissing, Aerobic conditioning: an effective therapy in McArdle's disease

, Ann Neurol, vol.59, pp.922-928, 2006.

J. Vissing and R. G. Haller, The effect of oral sucrose on exercise tolerance in patients with McArdle's disease, N Engl J Med, vol.349, pp.2503-2509, 2003.

C. R. Roe, T. Bottiglieri, and M. Wallace, Adult polyglucosan body disease (APBD): anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways, Mol Genet Metab, vol.101, pp.246-252, 2010.

J. Vockley, B. Burton, and G. T. Berry, UX007 for the treatment of long chain-fatty acid oxidation disorders: safety and efficacy in children and adults following 24 weeks of treatment, Mol Genet Metab, vol.120, pp.370-377, 2017.

J. Vockley, D. Marsden, and E. Mccracken, Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment-a retrospective chart review, Mol Genet Metab, vol.116, pp.53-60, 2015.

F. Mochel, S. Duteil, and C. Marelli, Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease, Eur J Hum Genet, vol.18, pp.1057-1060, 2010.

H. Brunengraber and C. R. Roe, Anaplerotic molecules: current and future, J Inherit Metab Dis, vol.29, pp.327-331, 2006.

S. Calvert, K. Barwick, and M. Par, A pilot study of addon oral triheptanoin treatment for children with medically refractory epilepsy, Eur J Paediatr Neurol, vol.22, pp.1074-1080, 2018.

F. Mochel, E. Hainque, and D. Gras, Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency, J Neurol Neurosurg Psychiatry, vol.87, pp.550-553, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01325371

M. B. Gillingham, S. B. Heitner, and J. Martin, Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial, J Inherit Metab Dis, vol.40, pp.831-843, 2017.

R. Schiffmann, M. E. Wallace, and D. Rinaldi, A doubleblind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome, J Inherit Metab Dis, vol.41, pp.877-883, 2018.

E. Hainque, S. Caillet, and S. Leroy, A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood, Orphanet J Rare Dis, vol.12, p.160, 2017.
URL : https://hal.archives-ouvertes.fr/inserm-01612741

A. J. Bakermans, M. S. Dodd, and K. Nicolay, Myocardial energy shortage and unmet anaplerotic needs in the fasted long-chain acyl-CoA dehydrogenase knockout mouse, Cardiovasc Res, vol.100, pp.441-449, 2013.

K. Sahlin, N. H. Areskog, and R. G. Haller, Impaired oxidative metabolism increases adenine nucleotide breakdown in McArdle's disease, J Appl Physiol, vol.69, pp.1231-1235, 1990.

J. L. Mat-e-muñoz, M. Moran, and M. , Favorable responses to acute and chronic exercise in McArdle patients, Clin J Sport Med, vol.17, pp.297-303, 2007.

A. Santalla, D. Mungu-ia-izquierdo, and L. Brea-alejo, Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits, Front Aging Neurosci, vol.6, p.334, 2014.

R. G. Haller and J. Vissing, No spontaneous second wind in muscle phosphofructokinase deficiency, Neurology, vol.62, pp.82-86, 2004.

, The Authors. Annals of Clinical and Translational Neurology, 2019.