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pyruvate carboxylase deficiency syndrome 相关文献:
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.
PMID:3927817
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.
PMID:16278852
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.
PMID:219411
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.
PMID:34109288
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.
PMID:6424438
Defects of pyruvate metabolism and the Krebs cycle.
De Meirleir L.
J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4.
PMID:12597053
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.
PMID:25735860
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.
PMID:7503391
Optimum nutrition: thiamin, biotin and pantothenate.
Bender DA.
Proc Nutr Soc. 1999 May;58(2):427-33. doi: 10.1017/s0029665199000567.
PMID:10466187
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.
PMID:28688166
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