These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 18676167)

  • 1. 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]  

  • 2. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
    Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
    Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
    Maryami F; Rismani E; Davoudi-Dehaghani E; Khalesi N; Talebi S; Mahdian R; Zeinali S
    Iran Biomed J; 2023 Sep; 27(5):307-19. PubMed ID: 37873728
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
    Marin-Valencia I; Roe CR; Pascual JM
    Mol Genet Metab; 2010 Sep; 101(1):9-17. PubMed ID: 20598931
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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. PubMed ID: 6424438
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Disorders of pyruvate metabolism.
    De Meirleir L
    Handb Clin Neurol; 2013; 113():1667-73. PubMed ID: 23622387
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
    Carbone MA; MacKay N; Ling M; Cole DE; Douglas C; Rigat B; Feigenbaum A; Clarke JT; Haworth JC; Greenberg CR; Seargeant L; Robinson BH
    Am J Hum Genet; 1998 Jun; 62(6):1312-9. PubMed ID: 9585612
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bovine pyruvate carboxylase 5' untranslated region variant expression during transition to lactation and feed restriction in dairy cows.
    White HM; Koser SL; Donkin SS
    J Anim Sci; 2011 Jun; 89(6):1881-92. PubMed ID: 21278109
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.
    Augereau C; Pham Dinh D; Moncion A; Marsac C; Saudubray JM; Robinson BH
    J Inherit Metab Dis; 1985; 8(2):59-62. PubMed ID: 3939532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.