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226 related items for PubMed ID: 3123240
1. "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Brown GK, Haan EA, Kirby DM, Scholem RD, Wraith JE, Rogers JG, Danks DM. Eur J Pediatr; 1988 Jan; 147(1):10-4. PubMed ID: 3123240 [Abstract] [Full Text] [Related]
2. Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL. Pediatr Neurol; 1994 Oct; 11(3):224-9. PubMed ID: 7880337 [Abstract] [Full Text] [Related]
3. [Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. Merinero Cortés B, del Valle Martínez J, Pérez-Cerdá Silvestre C, García Muñoz MJ, Cortés Coto MT, García Aparicio J, Sáez Pérez E, Ugarte Pérez M. An Esp Pediatr; 1988 Jul; 29(1):57-60. PubMed ID: 3142324 [Abstract] [Full Text] [Related]
4. The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis. Stacpoole PW, Bunch ST, Neiberger RE, Perkins LA, Quisling R, Hutson AD, Greer M. J Pediatr; 1999 Jan; 134(1):99-102. PubMed ID: 9880457 [Abstract] [Full Text] [Related]
5. 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. PubMed ID: 203466 [Abstract] [Full Text] [Related]
6. Treatment of lactic acidosis: effects of dichloroacetate on lactate and pyruvate levels in the cerebrospinal fluid. Okabe I, Kodama H, Shimoizumi H, Kamoshita S, Miyabayashi S. Eur J Pediatr; 1986 Apr 17; 145(1-2):159. PubMed ID: 3732323 [No Abstract] [Full Text] [Related]
7. Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase. Strömme JH, Borud O, Moe PJ. Pediatr Res; 1976 Jan 17; 10(1):62-6. PubMed ID: 813176 [Abstract] [Full Text] [Related]
8. [Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)]. Wendel U, Przyrembel H, Becker K, Walther B, Berger R, Bremer HJ. Monatsschr Kinderheilkd (1902); 1978 Mar 17; 126(3):140-7. PubMed ID: 417240 [Abstract] [Full Text] [Related]
9. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Cederbaum SD, Blass JP, Minkoff N, Brown WJ, Cotton ME, Harris SH. Pediatr Res; 1976 Aug 17; 10(8):713-20. PubMed ID: 821033 [Abstract] [Full Text] [Related]
10. Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes. Haworth JC, Perry TL, Blass JP, Hansen S, Urquhart N. Pediatrics; 1976 Oct 17; 58(4):564-72. PubMed ID: 184426 [Abstract] [Full Text] [Related]
11. Investigation of enzyme defects in children with lactic acidosis. Merinero B, Pérez-Cerda C, Ugarte M. J Inherit Metab Dis; 1992 Oct 17; 15(5):696-706. PubMed ID: 1331606 [Abstract] [Full Text] [Related]
13. Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis. Michotte A, De Meirleir L, Lissens W, Denis R, Wayenberg JL, Liebaers I, Brucher JM. Acta Neuropathol; 1993 Apr 17; 85(6):674-8. PubMed ID: 8337946 [Abstract] [Full Text] [Related]
14. The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. Robinson BH, Taylor J, Sherwood WG. Pediatr Res; 1980 Aug 17; 14(8):956-62. PubMed ID: 6775276 [Abstract] [Full Text] [Related]
15. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y. Pediatr Res; 1994 Sep 17; 36(3):340-6. PubMed ID: 7808831 [Abstract] [Full Text] [Related]
16. Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis. Farrell DF, Clark AF, Scott CR, Wennberg RP. Science; 1975 Mar 21; 187(4181):1082-4. PubMed ID: 803713 [Abstract] [Full Text] [Related]
17. Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patients. Iso A, Murakami N, Yoneyama H, Hanaoka S, Kurokawa T, Nonaka I. Brain Dev; 1993 Mar 21; 15(5):384-6. PubMed ID: 8279656 [Abstract] [Full Text] [Related]
18. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency. Sharma R, Sharrard MJ, Connolly DJ, Mordekar SR. Dev Med Child Neurol; 2012 May 21; 54(5):469-71. PubMed ID: 21895644 [Abstract] [Full Text] [Related]
19. Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. De Meirleir L, Lissens W, Denis R, Wayenberg JL, Michotte A, Brucher JM, Vamos E, Gerlo E, Liebaers I. Pediatr Neurol; 1993 May 21; 9(3):216-20. PubMed ID: 8352855 [Abstract] [Full Text] [Related]
20. Cerebrospinal fluid lactate and pyruvate concentrations in patients with Parkinson's disease and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Yamamoto M, Ujike H, Wada K, Tsuji T. J Neurol Neurosurg Psychiatry; 1997 Mar 21; 62(3):290. PubMed ID: 9069491 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]