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42. Primary amino acid sequence and structure of human pyruvate carboxylase. Wexler ID; Du Y; Lisgaris MV; Mandal SK; Freytag SO; Yang BS; Liu TC; Kwon M; Patel MS; Kerr DS Biochim Biophys Acta; 1994 Oct; 1227(1-2):46-52. PubMed ID: 7918683 [TBL] [Abstract][Full Text] [Related]
43. Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency. Wong LT; Davidson AG; Applegarth DA; Dimmick JE; Norman MG; Toone JR; Pirie G; Wong J Pediatr Res; 1986 Mar; 20(3):274-9. PubMed ID: 3085060 [TBL] [Abstract][Full Text] [Related]
44. Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms. Rutledge SL; Snead OC; Kelly DR; Kerr DS; Swann JW; Spink DL; Martin DL Pediatr Neurol; 1989; 5(4):249-52. PubMed ID: 2553027 [TBL] [Abstract][Full Text] [Related]
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51. Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype. Arnold GL; Griebel ML; Porterfield M; Brewster M Clin Pediatr (Phila); 2001 Sep; 40(9):519-21. PubMed ID: 11583052 [No Abstract] [Full Text] [Related]
52. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Van Maldergem L; Yuksel-Apak M; Kayserili H; Seemanova E; Giurgea S; Basel-Vanagaite L; Leao-Teles E; Vigneron J; Foulon M; Greally M; Jaeken J; Mundlos S; Dobyns WB Neurology; 2008 Nov; 71(20):1602-8. PubMed ID: 18716235 [TBL] [Abstract][Full Text] [Related]
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54. Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex. Robinson BH; MacKay N; Chun K; Ling M J Inherit Metab Dis; 1996; 19(4):452-62. PubMed ID: 8884569 [TBL] [Abstract][Full Text] [Related]
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56. Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency. Van Biervliet JP; Bruinvis L; van der Heiden C; Ketting D; Wadman SK; Willemse JL; Monnens LA Dev Med Child Neurol; 1977 Jun; 19(3):392-401. PubMed ID: 407120 [No Abstract] [Full Text] [Related]
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60. Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. Coude FX; Ogier H; Marsac C; Munnich A; Charpentier C; Saudubray JM Pediatrics; 1981 Dec; 68(6):914. PubMed ID: 6798542 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]