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7. Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B. Xue M Front Endocrinol (Lausanne); 2023; 14():1199590. PubMed ID: 37484962 [TBL] [Abstract][Full Text] [Related]
9. Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. Carbone MA; Applegarth DA; Robinson BH Hum Mutat; 2002 Jul; 20(1):48-56. PubMed ID: 12112657 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16278852 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. Wang D; Yang H; De Braganca KC; Lu J; Yu Shih L; Briones P; Lang T; De Vivo DC Mol Genet Metab; 2008; 95(1-2):31-8. PubMed ID: 18676167 [TBL] [Abstract][Full Text] [Related]
13. Defects of pyruvate metabolism and the Krebs cycle. De Meirleir L J Child Neurol; 2002 Dec; 17 Suppl 3():3S26-33; discussion 3S33-4. PubMed ID: 12597053 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. [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 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]