Case report of Takotsubo syndrome following seizures in a patient with pyruvate carboxylase deficiency.
Sahdev N, Oji O, Babu A, Dutta Roy S.
Eur Heart J Case Rep. 2021 Mar 4;5(3):ytab011. doi: 10.1093/ehjcr/ytab011. eCollection 2021 Mar.
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC.
Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602.
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM.
Ann Neurol. 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709.
The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.
Robinson BH, Oei J, Sherwood WG, Applegarth D, Wong L, Haworth J, Goodyer P, Casey R, Zaleski LA.
Am J Hum Genet. 1984 Mar;36(2):283-94.
Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease.
Atkin BM, Buist NR, Utter MF, Leiter AB, Banker BQ.
Pediatr Res. 1979 Feb;13(2):109-16. doi: 10.1203/00006450-197902000-00005.
Ammonia metabolism and hyperammonemic disorders.
Walker V.
Adv Clin Chem. 2014;67:73-150. doi: 10.1016/bs.acc.2014.09.002. Epub 2014 Nov 4.
Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease).
Sander J, Packman S, Berg BO, Hutchison HT, Caswell N.
Neurology. 1984 Apr;34(4):515-6. doi: 10.1212/wnl.34.4.515.
Triheptanoin for the treatment of brain energy deficit: A 14-year experience.
Mochel F.
J Neurosci Res. 2017 Nov;95(11):2236-2243. doi: 10.1002/jnr.24111. Epub 2017 Jul 8.
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C.
Am J Hum Genet. 1984 Jan;36(1):80-92.
Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only.
Wang HS, Lin KL.
Biomed J. 2013 Jan-Feb;36(1):16-7. doi: 10.4103/2319-4170.107155.
