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4. The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe. Robinson BH; Oei J; Saudubray JM; Marsac C; Bartlett K; Quan F; Gravel R Am J Hum Genet; 1987 Jan; 40(1):50-9. PubMed ID: 3101494 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines. Feldman GL; Wolf B Biochem Genet; 1980 Jun; 18(5-6):617-24. PubMed ID: 6776949 [TBL] [Abstract][Full Text] [Related]
9. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. Wexler ID; Kerr DS; Du Y; Kaung MM; Stephenson W; Lusk MM; Wappner RS; Higgins JJ Pediatr Res; 1998 May; 43(5):579-84. PubMed ID: 9585002 [TBL] [Abstract][Full Text] [Related]
10. Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency. Higgins JJ; Ide SE; Oghalai JS; Polymeropoulos MH Clin Biochem; 1997 Feb; 30(1):79-81. PubMed ID: 9056115 [No Abstract] [Full Text] [Related]
11. MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency. Higgins JJ; Glasgow AM; Lusk M; Kerr DS J Child Neurol; 1994 Oct; 9(4):436-9. PubMed ID: 7822739 [TBL] [Abstract][Full Text] [Related]
13. Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency. Demir Köse M; Colak R; Yangin Ergon E; Kulali F; Yildiz M; Alkan S; Atilgan T; Aslan F; Brown R; Brown G; Serdaroğlu E; Çalkavur S J Pediatr Endocrinol Metab; 2020 Apr; 33(4):569-574. PubMed ID: 32145058 [TBL] [Abstract][Full Text] [Related]
14. Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases). Gravel RA; Robinson BH Ann N Y Acad Sci; 1985; 447():225-34. PubMed ID: 3925855 [No Abstract] [Full Text] [Related]
15. Carrier detection of pyruvate carboxylase deficiency in fibroblasts and lymphocytes. Atkin BM Pediatr Res; 1979 Oct; 13(10):1101-4. PubMed ID: 116187 [TBL] [Abstract][Full Text] [Related]
16. The biotin-dependent carboxylase deficiencies. Wolf B; Feldman GL Am J Hum Genet; 1982 Sep; 34(5):699-716. PubMed ID: 6127031 [No Abstract] [Full Text] [Related]
17. Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. Feldman GL; Hsia YE; Wolf B Am J Hum Genet; 1981 Sep; 33(5):692-701. PubMed ID: 6794361 [TBL] [Abstract][Full Text] [Related]
18. Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Coci EG; Gapsys V; Shur N; Shin-Podskarbi Y; de Groot BL; Miller K; Vockley J; Sondheimer N; Ganetzky R; Freisinger P Hum Mutat; 2019 Jun; 40(6):816-827. PubMed ID: 30870574 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. Schiff M; Levrat V; Acquaviva C; Vianey-Saban C; Rolland MO; Guffon N Mol Genet Metab; 2006 Feb; 87(2):175-7. PubMed ID: 16325442 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]