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.
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.
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.
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.
An atypical French form of pyruvate carboxylase deficiency.
Pineda M, Campistol J, Vilaseca MA, Briones P, Ribes A, Temudo T, Pons M, Cusi V, Rolland MO.
Brain Dev. 1995 Jul-Aug;17(4):276-9. doi: 10.1016/0387-7604(95)00057-i.
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.
Defects of pyruvate metabolism and the Krebs cycle.
De Meirleir L.
J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4.
Optimum nutrition: thiamin, biotin and pantothenate.
Bender DA.
Proc Nutr Soc. 1999 May;58(2):427-33. doi: 10.1017/s0029665199000567.
Congenital lactic acidosis due to pyruvate carboxylase deficiency: absence of an inhibitor of TPP-ATP phosphoryl transferase.
Tada K, Takada G, Omura K, Itokawa Y.
Eur J Pediatr. 1978 Jan 17;127(2):141-7. doi: 10.1007/BF00445770.
